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	ehlers-danlos syndrome, type iv

Disease ID	1655
Disease	ehlers-danlos syndrome, type iv
Definition	Ehlers-Danlos syndrome, type IV is the vascular type Ehlers-Danlos syndrome. It results from mutations in the COL3A1 gene.
Synonym	eds iv eds4 ehlers danlos syndrome type 4, autosomal dominant ehlers danlos syndrome, arterial type ehlers danlos syndrome, ecchymotic type ehlers danlos syndrome, sack barabas type ehlers danlos syndrome, sack-barabas type ehlers danlos syndrome, type iv ehlers danlos syndrome, vascular type ehlers-danlos syndrome arterial type e-d ehlers-danlos syndrome ecchymotic type e-d ehlers-danlos syndrome type iv ehlers-danlos syndrome, arterial type ehlers-danlos syndrome, ecchymotic type ehlers-danlos syndrome, sack-barabas type ehlers-danlos syndrome, type 4 ehlers-danlos syndrome, type 4 (disorder) ehlers-danlos syndrome, type iv, autosomal dominant ehlers-danlos syndrome, vascular type sack syndrome sack-barabas syndrome
Orphanet	ORPHANET:286
OMIM	OMIM:130050
UMLS	C0268338
SNOMED-CT	SNOMEDCT_US_2016_09_01:17025000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0040961 \| tricuspid insufficiency \| 1 C0021845 \| bowel perforation \| 1 C0003486 \| aortic aneurysm \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1281 \| COL3A1 \| CLINVAR;ORPHANET;UNIPROT 1289 \| COL5A1 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1281 \| COL3A1 \| CIPHER
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1655
Disease	ehlers-danlos syndrome, type iv
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:23) HP:0002108 \| Spontaneous pneumothorax HP:0000233 \| Decreased volume of lip vermillion HP:0004322 \| Stature below 3rd percentile HP:0006480 \| Premature loss of teeth HP:0009771 \| Acro-osteolysis HP:0001762 \| Talipes equinovarus HP:0005267 \| Premature delivery because of cervical insufficiency or membrane fragility HP:0000563 \| Conical cornea HP:0002293 \| Scalp hair loss HP:0002105 \| Hemoptysis HP:0000139 \| Sagging uterus HP:0000993 \| Molluscoid pseudotumor HP:0000978 \| Bruisability HP:0001842 \| Foot acroosteolysis HP:0001073 \| 'cigarette paper scarring' HP:0000023 \| Inguinal hernia HP:0000704 \| Pyorrhea HP:0001634 \| Mitral valve prolapse HP:0000079 \| Urinary tract anomalies HP:0000387 \| Absent earlobe HP:0001030 \| Fragile skin HP:0006201 \| Hypermobility of distal interphalangeal joints HP:0004944 \| Cerebral artery aneurysm
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002617 \| Aneurysmal dilatation \| 2 HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0004942 \| Aortic aneurysm \| 1

Disease ID	1655
Disease	ehlers-danlos syndrome, type iv
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0238045 \| carotid-cavernous fistula \| 3

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:343)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111505097	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008943	G	A,T
rs111929073	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999471	G	A,T
rs112371422	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007569	C	G,T
rs112456072	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008961	G	A
rs113485686	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001554	G	A
rs113871730	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991697	G	A
rs121912913	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004302	G	A,T
rs121912914	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006400	G	A,T
rs121912915	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006965	G	T
rs121912916	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006207	G	A
rs121912917	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008952	G	A,T
rs121912918	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008135	G	A,T
rs121912919	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991678	G	A
rs121912921	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998693	G	A
rs121912922	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004312	G	T
rs121912923	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188996479	G	A,C
rs121912924	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007546	G	A
rs121912925	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999560	G	A,T
rs121912926	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988099	G	A,C,T
rs121912927	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990308	G	A,T
rs121912928	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188996171	G	A
rs267599120	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988590	G	A,C
rs387906557	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;LOC105373791	2	188985737	G	C
rs397509369	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189002343	G	A
rs397509370	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994595	G	A,T
rs397509371	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003067	G	T
rs397509372	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188996501	G	A,T
rs397509373	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004365	G	A
rs397509374	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189002999	GGGTGAGAAAGGTGAAGGAGGCCCTCC	-
rs397509375	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988140	T	A,C
rs397509376	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997394	G	A,T
rs397509377	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188987090	-	T
rs553203474	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999570	G	A
rs587779416	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005395	G	T
rs587779417	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003457	G	A
rs587779418	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999888	G	A
rs587779419	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992923	G	A
rs587779420	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988100	G	A,C
rs587779421	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997746	G	A
rs587779422	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991727	G	A
rs587779423	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991728	T	A,C
rs587779424	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004144	G	A
rs587779425	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991722	AGTGAGTATAGCTGC	-
rs587779426	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991724	T	A,C
rs587779427	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991005	G	T
rs587779428	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006346	G	T
rs587779429	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998720	T	C
rs587779430	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994077	GAAATGGTAAGCTGTCCCCACTCCTCAGC	-
rs587779431	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008108	G	A,T
rs587779432	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004100	G	A
rs587779433	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998683	G	C
rs587779434	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004294	G	A
rs587779435	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997745	G	A,C
rs587779436	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988608	G	C
rs587779437	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999488	G	A
rs587779438	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004257	G	A
rs587779439	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007545	G	A
rs587779440	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991670	G	A,T
rs587779441	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989415	G	A,C
rs587779442	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999340	G	C
rs587779443	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993460	G	A,T
rs587779444	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007939	G	A,C,T
rs587779445	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007591	G	T
rs587779446	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988108	G	A
rs587779447	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004275	G	A
rs587779448	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007943	G	A
rs587779449	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005359	G	A,C
rs587779450	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004091	G	A,T
rs587779451	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988107	T	-
rs587779452	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991725	G	T
rs587779453	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994597	A	C
rs587779454	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998684	G	A,T
rs587779455	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990328	A	-
rs587779456	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005396	G	A
rs587779457	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003469	G	A,T
rs587779458	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999331	G	T
rs587779459	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994083	G	A,C
rs587779460	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999376	G	A
rs587779461	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001450	G	A
rs587779462	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997351	AA	-
rs587779463	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990361	G	A
rs587779464	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990317	G	A,T
rs587779465	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008126	G	A,T
rs587779466	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003421	G	A
rs587779467	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189010201	C	G,T
rs587779468	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990123	G	C
rs587779469	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006974	G	A
rs587779470	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989441	G	C
rs587779471	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004090	G	A,T
rs587779472	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008090	G	A
rs587779473	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008099	G	A,T
rs587779474	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999330	G	A
rs587779475	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998316	ACCAGTAA	-
rs587779476	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188995056	G	A
rs587779477	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997211	G	A,T
rs587779478	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991014	G	A
rs587779479	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006236	C	T
rs587779480	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006991	G	A
rs587779481	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991669	G	C
rs587779482	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008125	G	A
rs587779483	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004046	G	T
rs587779484	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999551	G	A
rs587779485	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994279	G	T
rs587779486	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189002991	G	T
rs587779487	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991715	G	C
rs587779488	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005353	G	T
rs587779489	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994577	G	A,C
rs587779490	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189010320	G	-
rs587779491	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006373	G	T
rs587779492	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001407	G	T
rs587779493	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998675	G	A
rs587779494	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003412	G	A
rs587779495	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008054	G	A
rs587779496	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994538	T	G
rs587779497	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989451	T	A,G
rs587779498	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993362	G	T
rs587779499	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993397	G	A
rs587779500	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188995065	G	A,T
rs587779501	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006995	G	A
rs587779502	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008033	A	G,T
rs587779503	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006261	T	C,G
rs587779504	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008960	G	A
rs587779505	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004028	G	A
rs587779506	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005458	G	A
rs587779507	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988117	G	C
rs587779508	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988135	G	C
rs587779509	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006958	GCTCCCGGTCCTGCTGGT	-
rs587779510	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997166	GTGCTCC	TAAG
rs587779511	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004321	G	A
rs587779512	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999367	G	A,T
rs587779513	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001452	T	C
rs587779514	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003063	G	-
rs587779515	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988636	G	T
rs587779516	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992229	G	A
rs587779517	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004258	G	A
rs587779518	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989424	G	A,T
rs587779519	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003410	G	A
rs587779520	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994037	G	C
rs587779521	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008134	G	A
rs587779522	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997736	G	C
rs587779523	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188995091	G	A
rs587779524	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988136	-	T
rs587779525	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993409	CAAAGAGGAGAACCTGGA	-
rs587779526	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003019	G	A
rs587779527	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997189	C	T
rs587779528	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189010205	G	A
rs587779529	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006227	CTT	-
rs587779530	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188996498	T	C,G
rs587779531	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991049	G	A
rs587779532	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005463	T	C
rs587779533	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989433	G	C,T
rs587779534	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994270	G	C
rs587779535	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188996179	G	A,C,T
rs587779536	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007912	G	A
rs587779537	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188996180	-	T
rs587779538	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993464	G	A
rs587779539	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997382	G	A,T
rs587779540	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006418	G	A
rs587779541	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001398	G	A,T
rs587779542	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004357	G	T
rs587779543	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999533	G	A
rs587779544	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993452	G	A
rs587779545	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006391	G	A
rs587779546	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007883	A	C
rs587779547	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993425	G	T
rs587779548	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005413	G	A,C
rs587779549	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999498	G	A
rs587779550	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004135	G	A,T
rs587779551	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006938	G	T
rs587779552	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005450	G	A
rs587779553	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008107	G	A,C,T
rs587779554	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006955	G	A
rs587779555	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989442	G	A
rs587779556	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991668	G	C
rs587779557	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989396	G	A
rs587779558	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001395	A	G
rs587779559	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004348	G	A,C
rs587779560	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999470	GGTGCTGCTGGTCCTCCTGGGCCACCT	-
rs587779561	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007563	G	A
rs587779562	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008034	G	T
rs587779563	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006444	G	A
rs587779564	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001555	G	T
rs587779565	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189010890	G	A
rs587779566	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004126	G	C
rs587779567	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004266	G	A
rs587779568	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005462	G	A
rs587779569	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993434	G	A
rs587779570	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990142	G	A
rs587779571	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004330	G	T
rs587779572	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189002353	-	T
rs587779573	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997754	G	A,C
rs587779574	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008933	G	C
rs587779575	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997698	A	G,T
rs587779576	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005405	G	A
rs587779577	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999321	G	C
rs587779578	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008117	G	T
rs587779579	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993378	-	GACCCTGCA
rs587779580	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004338	G	A
rs587779581	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999516	G	A
rs587779582	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006355	G	T
rs587779583	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005377	G	A
rs587779584	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188996134	G	A
rs587779585	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189011667	C	T
rs587779586	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994307	G	A
rs587779587	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999313	G	T
rs587779588	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992194	G	A,T
rs587779589	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004001	G	C
rs587779590	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003781	TAGTAATGTAAGTA	GACCTGAGAC
rs587779591	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999349	G	A
rs587779592	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988627	G	T
rs587779593	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991041	G	A
rs587779594	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997211	G	-
rs587779595	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005351	G	A
rs587779596	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989406	G	A
rs587779597	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999286	G	T
rs587779598	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991726	A	T
rs587779599	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004019	G	A
rs587779600	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997390	G	C
rs587779601	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988599	G	A
rs587779602	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992885	A	G
rs587779603	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998321	T	G
rs587779604	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990353	G	A
rs587779605	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990326	G	A,T
rs587779606	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999542	G	A
rs587779607	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992208	C	T
rs587779608	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997176	-	T
rs587779609	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008116	G	C,T
rs587779610	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007528	G	A
rs587779611	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997728	G	A
rs587779612	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994037	GGGCCCTCCTGGGATTAA	CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
rs587779613	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997336	G	C
rs587779614	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007537	G	T
rs587779615	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999561	G	T
rs587779616	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997381	G	C,T
rs587779617	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004256	G	A
rs587779618	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189011772	T	C
rs587779619	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006427	G	T
rs587779620	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998303	G	A
rs587779621	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994734	G	A
rs587779622	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003771	G	A
rs587779623	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999375	G	A
rs587779624	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989414	G	T
rs587779625	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990114	G	A
rs587779626	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988618	G	A
rs587779627	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008934	G	T
rs587779628	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988636	-	ACCTGGGCAAGCTGG
rs587779629	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990133	G	A,T
rs587779630	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001406	G	A
rs587779631	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994306	G	A
rs587779632	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188995693	G	T
rs587779633	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994760	G	A
rs587779634	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997364	G	A
rs587779635	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990344	G	A
rs587779636	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189002356	G	A
rs587779637	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994288	G	A
rs587779638	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999524	G	A
rs587779639	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007600	G	A
rs587779640	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004320	G	C,T
rs587779641	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988600	G	A
rs587779642	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003010	G	A
rs587779643	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998718	G	A,T
rs587779644	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991032	G	A
rs587779645	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003762	G	T
rs587779646	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008113	C	T
rs587779647	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189010343	A	-
rs587779648	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008036	G	A
rs587779649	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992230	T	A
rs587779650	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992202	G	A
rs587779651	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006408	G	C
rs587779652	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991723	G	A
rs587779653	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003043	-	C
rs587779654	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004303	G	A,T
rs587779655	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992187	GCTCGGGGTAATGACGGTGC	TTTACATCGAGGGTTTTAAAGTTTACA
rs587779656	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990106	G	A
rs587779657	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999490	GCCACCTGGTGCTGCTGGTACTCCTGG	-
rs587779658	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189010217	A	T
rs587779659	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189005441	G	A
rs587779660	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188989450	G	A
rs587779661	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998267	G	T
rs587779662	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004073	G	A
rs587779663	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001451	G	A
rs587779664	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003063	G	A,C
rs587779665	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994786	T	-
rs587779666	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007519	G	T
rs587779667	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007457	T	G
rs587779668	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999357	G	C
rs587779669	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	NA	NA	NA	NA	NA
rs587779670	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992877	A	G
rs587779671	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988139	G	A,T
rs587779672	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007510	G	A
rs587779673	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992888	G	A
rs587779674	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004293	G	A
rs587779675	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999384	G	C
rs587779676	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988644	G	A
rs587779677	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;LOC105373791	2	188974519	G	A
rs587779678	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999489	G	A
rs587779679	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188996162	G	A
rs587779680	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999534	G	A
rs587779681	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988638	CCTTCAGTAAGT	TACTAAATATA
rs587779682	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006935	A	G
rs587779683	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008942	G	A
rs587779684	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003064	T	C
rs587779685	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999569	G	A
rs587779686	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993415	GGA	-
rs587779687	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188992886	G	C
rs587779688	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988648	G	A
rs587779689	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189002308	G	A
rs587779690	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003411	G	T
rs587779691	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997166	G	A
rs587779692	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994297	G	A
rs587779693	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188995738	G	A
rs587779694	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189001397	G	C
rs587779695	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999479	G	A
rs587779696	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188993406	G	A
rs587779697	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999843	G	T
rs587779698	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999525	G	A
rs587779699	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998312	G	A
rs587779700	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188998668	TCCCAGGGTC	-
rs587779701	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188995036	T	G
rs587779702	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188996126	G	-
rs587779703	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008970	G	A
rs587779704	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006354	G	T
rs587779705	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188990316	G	C
rs587779706	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999358	G	A
rs587779707	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;LOC105373791	2	188985744	C	-
rs587779708	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188999284	G	A
rs587779709	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189006947	G	T
rs587779710	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988127	G	T
rs587779711	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988617	G	A
rs587779712	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008973	-	AGGG
rs587779713	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003065	A	G,T
rs587779714	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188988091	G	A
rs587779715	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189008089	G	C
rs587779716	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004055	G	A
rs587779717	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189003430	G	T
rs587779718	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188991004	G	A
rs587779719	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189011659	TT	-
rs587779720	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189007931	G	A
rs587779721	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994599	G	C
rs587779722	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997163	A	G
rs587779723	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	189004347	G	A
rs786200946	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1	2	188997755	TAAG	-
rs794727181	NA	1281	COL3A1	umls:C0268338	CLINVAR	NA	0.453224707	NA	COL3A1;MIR3606	2	188994039	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:10)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004944	Cerebral aneurysm	MP:0010661	ascending aorta aneurysm	a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall
HP:0000079	Abnormality of the urinary system	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0000023	Inguinal hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0001634	Mitral valve prolapse	MP:0010617	thick mitral valve cusps	an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness
HP:0009771	Osteolytic defects of the phalanges of the hand	MP:0009886	failure of palatal shelf elevation	the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
HP:0001030	Fragile skin	MP:0009473	abnormal skin exfoliation	anomaly in the process of detachment and shedding of superficial cells of a skin epithelium
HP:0000139	Uterine prolapse	MP:0000493	rectal prolapse	downward movement and external appearance of the rectum through the anus
HP:0006480	Premature loss of teeth	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000978	Bruising susceptibility	MP:0005596	increased susceptibility to type I hypersensitivity reaction	greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a
HP:0002293	Alopecia of scalp	MP:0012069	abnormal horizontal basal cell of olfactory epithelium morphology	any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas

Mapped by homologous gene(Total Items:23)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002293	Alopecia of scalp	MP:0013282	urinary bladder exstrophy	a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de
HP:0001634	Mitral valve prolapse	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000978	Bruising susceptibility	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0006201	Hypermobility of distal interphalangeal joints	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0002105	Hemoptysis	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0000387	Absent earlobe	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0006480	Premature loss of teeth	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002108	Spontaneous pneumothorax	MP:0012431	increased lymphoma incidence	greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0000563	Keratoconus	MP:0013743	ciliary body hypoplasia	underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris
HP:0000993	Molluscoid pseudotumors	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000233	Thin vermilion border	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004944	Cerebral aneurysm	MP:0014074	increased brain glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0001762	Talipes equinovarus	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000079	Abnormality of the urinary system	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000023	Inguinal hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001030	Fragile skin	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000139	Uterine prolapse	MP:0011862	decreased cranium length	having an decreased dorsal-to-ventral distance of the cranium
HP:0000704	Periodontitis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0009771	Osteolytic defects of the phalanges of the hand	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0001073	Cigarette-paper scars	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001842	Acroosteolysis (feet)	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death

Disease ID	1655
Disease	ehlers-danlos syndrome, type iv
Case	(Waiting for update.)