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	hereditary breast and ovarian cancer syndrome

Disease ID	1681
Disease	hereditary breast and ovarian cancer syndrome
Definition	Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers.
Synonym	familial breast and ovarian cancer syndrome familial breast/ovarian cancer (brca1, brca2) hboc syndrome hboc syndromes hereditary breast and ovarian cancer hereditary breast and ovarian cancer syndrome (disorder) hereditary breast and ovarian cancer syndrome [disease/finding] hereditary breast/ovarian cancer (brca1, brca2) syndrome, hboc syndromes, hboc
Orphanet	ORPHANET:145
UMLS	C0677776
MeSH	D061325
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0006142 \| breast cancer \| 1 C1140680 \| ovarian ca \| 1 C1140680 \| ovarian cancer \| 1 C0677886 \| epithelial ovarian cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 11200 \| CHEK2 \| ORPHANET 5728 \| PTEN \| ORPHANET 7157 \| TP53 \| ORPHANET 83990 \| BRIP1 \| ORPHANET 10111 \| RAD50 \| ORPHANET 5888 \| RAD51 \| ORPHANET 675 \| BRCA2 \| CLINVAR;CTD_human;ORPHANET 4683 \| NBN \| ORPHANET 79728 \| PALB2 \| ORPHANET 5889 \| RAD51C \| ORPHANET 672 \| BRCA1 \| CLINVAR;CTD_human;ORPHANET 580 \| BARD1 \| ORPHANET 5892 \| RAD51D \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:14) PTEN \| 10q23.31 CHEK2 \| 22q12.1 RAD51C \| 17q22 RAD50 \| 5q31.1 NBN \| 8q21.3 MRE11 \| 11q21 TP53 \| 17p13.1 BRCA1 \| 17q21.31 BRCA2 \| 13q13.1 PALB2 \| 16p12.2 BARD1 \| 2q35 RAD51 \| 15q15.1 RAD51D \| 17q12 BRIP1 \| 17q23.2

Disease ID	1681
Disease	hereditary breast and ovarian cancer syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0011027 \| Abnormality of the fallopian tube HP:0012125 \| Prostate cancer HP:0002894 \| Neoplasm of the pancreas HP:0030406 \| Primary peritoneal carcinoma HP:0003002 \| Breast carcinoma HP:0100615 \| Ovarian neoplasm HP:0002861 \| Melanoma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0003002 \| Breast carcinoma \| 2

Disease ID	1681
Disease	hereditary breast and ovarian cancer syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:237)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11571658	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340630	TT	-
rs121912664	24884479	672	BRCA1	umls:C0677776	BeFree	Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a founder effect in our population prompted us to suggest that all female breast cancer patients with clinical criteria for HBOC and negative for BRCA1/2 genes should be tested for the TP53 R337H variant.	0.419988654	2014	TP53	17	7670699	C	T,G,A
rs121912664	24884479	7157	TP53	umls:C0677776	BeFree	Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a founder effect in our population prompted us to suggest that all female breast cancer patients with clinical criteria for HBOC and negative for BRCA1/2 genes should be tested for the TP53 R337H variant.	0.123528744	2014	TP53	17	7670699	C	T,G,A
rs137852986	19935797	83990	BRIP1	umls:C0677776	BeFree	Protein truncating mutations in BRIP1 have been identified in hereditary breast and ovarian cancer families, and a recent report suggested that a recurrent truncating mutation (R798X) may have a role in PCa susceptibility.	0.120542884	2009	BRIP1	17	61716051	G	A
rs142899125	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32362582	A	G
rs273899695	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43104263	T	-
rs273900730	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43076579	TAG	AA
rs276174813	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32333272	ATCTT	-
rs276174918	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32380141	AACA	TT
rs28897672	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43106487	A	T,G,C
rs28897686	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091783	C	T,A
rs28897696	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063903	G	T,A
rs28897743	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32346896	G	A,C,T
rs28897756	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32379913	G	A
rs386134270	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092695	TAC	G
rs386833395	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1;NBR2	17	43124028	CT	-
rs387906563	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094706	-	CCACATGGCT,CCACATGGCTC,NNNNNNNNNN
rs397507322	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338413	AAACG	-
rs397507333	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338770	AGAA	-
rs397507389	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32357741	G	A,C
rs397507419	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32379893	-	A
rs397507907	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32355104	CA	-
rs397507922	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32356610	G	A,T
rs397507941	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32362573	G	A,C
rs397507954	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32363225	A	G
rs397507962	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32363273	-	TT
rs397509016	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092694	AT	-
rs397509039	19865540	672	BRCA1	umls:C0677776	BeFree	This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand.	0.419988654	2009	BRCA1	17	43092379	G	C
rs397509211	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43070923	C	T,A
rs397509231	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063871	-	A
rs397509326	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43115781	T	G,C
rs397515635	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32332667	-	NNNN,TTAG
rs398122622	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32398321	G	-
rs398122677	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091859	G	-
rs398122715	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32379401	G	T
rs41293455	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43082434	G	C,A
rs41293459	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063930	C	T,G,A
rs41293463	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43051071	A	T,C
rs41293497	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340037	C	A,G,T
rs41293511	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32363369	G	C
rs431825325	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339331	-	G
rs45553935	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43057122	A	G,C
rs45580035	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32380043	C	T
rs4987049	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32398437	C	G,T
rs55763607	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32370490	C	T
rs55770810	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063931	G	T,A
rs56253082	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340137	G	A,T
rs587780651	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338132	T	-
rs587780653	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32326250	G	-
rs587780659	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340917	-	A
rs587780798	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093025	C	-
rs587780802	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091657	A	-
rs587781487	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43099809	-	A
rs587781506	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32362594	G	A
rs61757642	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32394936	A	T
rs61764370	20676756	3845	KRAS	umls:C0677776	BeFree	Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was shown to be associated with an increased risk for developing non-small cell lung cancer, as well as ovarian cancer, and was most enriched in ovarian cancer patients from hereditary breast and ovarian cancer families.	0.000542884	2011	KRAS	12	25207290	A	C
rs62625307	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091933	G	A
rs62625308	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091924	G	C,A
rs730882134	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337702	-	TA
rs745456776	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338942	-	A,G
rs786204172	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339997	AATC	-
rs786204209	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339046	-	C
rs786204260	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094290	-	C
rs786204273	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32331011	AA	-
rs797044986	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337945	-	A
rs797044987	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339950	AT	C
rs79728106	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337521	C	A,T
rs80356866	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091690	G	A
rs80356888	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43104173	G	T,A
rs80356896	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063946	C	A
rs80356898	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093844	G	A
rs80356945	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093193	G	T,C,A
rs80356962	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43047666	C	T
rs80356969	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43049174	G	A
rs80356974	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063917	A	C
rs80356978	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092809	C	A
rs80356991	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43104136	C	T,A
rs80356992	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43074394	G	A
rs80357033	19865540	672	BRCA1	umls:C0677776	BeFree	This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand.	0.419988654	2009	BRCA1	17	43106467	A	C
rs80357055	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43049140	G	T
rs80357064	24516540	672	BRCA1	umls:C0677776	BeFree	Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy).	0.419988654	2013	BRCA1	17	43106478	A	G,C
rs80357082	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093496	T	A
rs80357115	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092597	A	C
rs80357123	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43057078	G	A
rs80357132	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063888	A	G
rs80357133	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43099817	G	A
rs80357233	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093393	G	C
rs80357251	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092896	C	T,A
rs80357292	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094569	C	T
rs80357382	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43106457	T	C
rs80357382	19123044	672	BRCA1	umls:C0677776	BeFree	We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation.	0.419988654	2009	BRCA1	17	43106457	T	C
rs80357389	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43076488	C	T,A
rs80357433	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43071225	G	C
rs80357505	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094091	-	T
rs80357508	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091463	TTGA	-
rs80357509	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092046	T	-
rs80357516	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093653	-	NNNN,ACTA
rs80357522	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093570	T	-
rs80357567	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093647	ACTG	-
rs80357569	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094514	-	T
rs80357572	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43090963	CT	-
rs80357579	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091761	TC	-
rs80357580	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43067652	GTTA	-
rs80357590	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43049192	G	-
rs80357596	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092849	TTTC	-
rs80357598	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093088	T	-
rs80357601	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092529	T	-
rs80357604	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43104233	-	T
rs80357605	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092801	TTGA	-
rs80357609	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091827	TTTAC	-
rs80357629	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43045711	-	T
rs80357630	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093980	A	-
rs80357664	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093119	CT	-
rs80357669	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093074	G	-
rs80357685	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092804	-	T
rs80357688	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093460	T	-
rs80357701	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092199	TGCT	-
rs80357711	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091496	T	-
rs80357715	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093375	-	T
rs80357724	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094732	AA	-
rs80357729	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091903	-	T
rs80357797	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091859	-	NNNN,GGAA
rs80357801	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094084	TAAT	-
rs80357814	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093420	TT	-
rs80357819	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092664	GATGA	-
rs80357823	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43051075	-	G
rs80357824	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094846	A	-
rs80357832	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092722	TATC	-
rs80357842	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091672	CACT	-
rs80357856	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092478	-	NNNNN,TCTCA
rs80357859	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094327	C	-
rs80357867	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063350	TTTC	-
rs80357868	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091772	AGAC	-
rs80357877	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092040	CTAGTATCTTC	-
rs80357906	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43057065	-	G
rs80357915	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43074394	-	C
rs80357925	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43057070	T	-
rs80357928	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091769	-	AA
rs80357941	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094855	A	-
rs80357970	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43093056	G	-
rs80357971	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092849	TT	-
rs80357991	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43092532	T	-
rs80357997	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063889	C	-
rs80358015	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091432	T	C
rs80358023	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43070925	C	G
rs80358027	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43082403	C	T,G,A
rs80358033	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43095924	T	G,C
rs80358047	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43099773	A	T
rs80358061	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43104967	A	C
rs80358086	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43070922	A	G,C
rs80358094	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43063873	C	T,G,A
rs80358163	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43104968	T	C
rs80358178	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43091434	C	T
rs80358428	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32332889	G	T
rs80358435	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32319154	G	T
rs80358476	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32333333	C	T
rs80358515	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32319259	C	T
rs80358557	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337464	C	T
rs80358638	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338277	G	T
rs80358711	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339244	C	A,G
rs80358721	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339320	C	A,G
rs80358785	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340000	C	A,G
rs80358789	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340010	C	A
rs80358790	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340011	C	T
rs80358809	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32326563	G	A
rs80358814	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340212	G	T
rs80358815	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340219	C	A,G
rs80358851	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340479	C	T
rs80358998	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32331009	C	T
rs80359012	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32362585	A	G
rs80359082	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32370447	G	A
rs80359115	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32371043	C	T
rs80359133	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32379332	G	T
rs80359152	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32379800	G	A
rs80359200	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32394726	C	A,G
rs80359210	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32394808	C	T
rs80359212	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32394814	C	T
rs80359272	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32332735	T	-
rs80359283	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32332867	AG	-
rs80359303	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32333241	ATAA	-
rs80359304	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32333250	TTTA	-
rs80359306	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32333284	-	A
rs80359316	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32336284	G	-
rs80359351	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337161	AAAC	-
rs80359354	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337167	GCAA	-
rs80359357	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337191	GA	-
rs80359365	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337312	-	A,G
rs80359373	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337525	AGAAA	-
rs80359388	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337900	TT	-
rs80359391	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32337953	TG	-
rs80359395	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338035	TG	-
rs80359401	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338072	A	-
rs80359405	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338202	GT	-
rs80359439	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338637	-	T
rs80359444	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338753	ACATT	-
rs80359451	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338826	CTGA	-
rs80359452	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338827	TGAA	-
rs80359454	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338832	GAAA	-
rs80359461	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338986	A	-
rs80359462	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32338993	T	-
rs80359470	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339231	AA	-
rs80359475	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339320	C	-
rs80359480	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339428	-	A
rs80359489	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339513	-	T
rs80359507	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339705	AA	-
rs80359508	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339706	-	A
rs80359516	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339837	AAATT	-
rs80359520	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339930	ATTA	-
rs80359525	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32339971	AGTAA	-
rs80359530	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340073	CT	-
rs80359538	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340154	CCAA	-
rs80359541	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340183	C	-
rs80359550	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340301	T	-
rs80359584	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340757	TAACT	-
rs80359593	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340801	TTAAA	-
rs80359596	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340817	TC	-
rs80359604	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32329469	GT	-
rs80359605	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32340946	TG	-
rs80359636	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32354922	CT	-
rs80359645	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32330966	TGAT	-
rs80359659	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32330992	ACAG	-
rs80359671	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32331004	CAAAT	-
rs80359679	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32357886	A	-
rs80359705	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32363499	C	-
rs80359714	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32371001	AG	-
rs80359752	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32380142	-	A
rs80359754	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32394707	ATTT	-
rs80359773	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32398185	-	A
rs80359874	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43094317	GATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	-
rs80359876	NA	672	BRCA1	umls:C0677776	CLINVAR	NA	0.419988654	NA	BRCA1	17	43070932	TCTTCTGGGGTCAGGCCAG	-
rs81002797	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32326151	G	A,T
rs81002840	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32319330	G	A,C
rs81002843	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32356611	T	G
rs81002874	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32363178	G	C,T
rs81002885	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32316529	T	A,C
rs81002897	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32326614	G	A
rs81002899	NA	675	BRCA2	umls:C0677776	CLINVAR	NA	0.391215815	NA	BRCA2	13	32326615	T	C,G

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

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

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003002	Breast carcinoma	MP:0010367	increased spindle cell carcinoma incidence	greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s
HP:0002894	Neoplasm of the pancreas	MP:0008261	arrest of male meiosis	cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell

Mapped by homologous gene(Total Items:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003002	Breast carcinoma	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:0002861	Melanoma	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:0002894	Neoplasm of the pancreas	MP:0014126	increased mammary gland apoptosis	increase in the number of any cells of a mammary gland undergoing programmed cell death
HP:0012125	Prostate cancer	MP:0014126	increased mammary gland apoptosis	increase in the number of any cells of a mammary gland undergoing programmed cell death
HP:0100615	Ovarian neoplasm	MP:0014126	increased mammary gland apoptosis	increase in the number of any cells of a mammary gland undergoing programmed cell death

Disease ID	1681
Disease	hereditary breast and ovarian cancer syndrome
Case	(Waiting for update.)