All Snps(Total Genotypes:124) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs113488022 | 23190154 | 3845 | KRAS | umls:C0027831 | BeFree | Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to NF. | 0.002638474 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23190154 | 673 | BRAF | umls:C0027831 | BeFree | Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to NF. | 0.004267125 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24335681 | 673 | BRAF | umls:C0027831 | BeFree | These tumors have been reported to show increased activity in the mitogen-activated protein kinase pathway from the loss of neurofibromatosis-1 regulation and occasionally from BRAF V600E mutation. | 0.004267125 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121918457 | 21365175 | 5781 | PTPN11 | umls:C0027831 | BeFree | LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. | 0.001900093 | 2011 | PTPN11 | 12 | 112488466 | C | T |
| rs137854550 | 11857752 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. | 0.670236159 | 2002 | NF1 | 17 | 31258500 | A | G |
| rs137854550 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258500 | A | G |
| rs137854551 | 1302608 | 4763 | NF1 | umls:C0027831 | UNIPROT | Analysis of mutations at the neurofibromatosis 1 (NF1) locus. | 0.670236159 | 1992 | NF1 | 17 | 31337430 | C | A |
| rs137854551 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31337430 | C | A |
| rs137854552 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31334927 | C | T |
| rs137854552 | 16117786 | 4763 | NF1 | umls:C0027831 | BeFree | Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. | 0.670236159 | 2005 | NF1 | 17 | 31334927 | C | T |
| rs137854553 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31230373 | T | G |
| rs137854553 | 8807336 | 4763 | NF1 | umls:C0027831 | UNIPROT | LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). | 0.670236159 | 1996 | NF1 | 17 | 31230373 | T | G |
| rs137854554 | 9003501 | 4763 | NF1 | umls:C0027831 | UNIPROT | Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31258406 | A | T |
| rs137854554 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258406 | A | T |
| rs137854556 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31235729 | G | A,C |
| rs137854556 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31235729 | G | A,C |
| rs137854557 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31214524 | A | G |
| rs137854557 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31214524 | A | G |
| rs137854558 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31214581 | T | C |
| rs137854558 | 11258625 | 4763 | NF1 | umls:C0027831 | UNIPROT | Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. | 0.670236159 | 1999 | NF1 | 17 | 31214581 | T | C |
| rs137854559 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31249030 | C | T |
| rs137854560 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31249093 | C | T |
| rs137854562 | 12483293 | 6899 | TBX1 | umls:C0027831 | BeFree | Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (NF1), were found to possess different heritable and pathological mutations in their NF1 genes: a 1.5-Mb deletion spanning the entire NF1 gene, a truncating CGA-->TGA transition in exon 22 (R1241X), and a frameshift mutation in exon 29 (5406insT). | 0.000271442 | 2003 | NF1 | 17 | 31235623 | C | T |
| rs137854562 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31235623 | C | T |
| rs137854563 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31201044 | T | C |
| rs137854563 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31201044 | T | C |
| rs137854564 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31235630 | T | C |
| rs137854564 | 15520408 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). | 0.670236159 | 2004 | NF1 | 17 | 31235630 | T | C |
| rs137854565 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31330459 | G | T |
| rs137854566 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31229146 | T | C,G |
| rs137854566 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31229146 | T | C,G |
| rs137854566 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31229146 | T | C,G |
| rs142712751 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31223532 | T | C,G |
| rs149055633 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31352319 | C | T |
| rs199474725 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31156014 | A | G |
| rs199474728 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31159083 | G | A |
| rs199474729 | 11857752 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. | 0.670236159 | 2002 | NF1 | 17 | 31159050 | C | T |
| rs199474730 | 11857752 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. | 0.670236159 | 2002 | NF1 | 17 | 31227547 | T | C |
| rs199474731 | 10607834 | 4763 | NF1 | umls:C0027831 | UNIPROT | The location and type of mutation within the NF1 gene, and its putative effect at the protein level, do not indicate any relationship to any specific clinical feature of NF1. | 0.670236159 | 2000 | NF1 | 17 | 31163247 | T | G |
| rs199474732 | 10607834 | 4763 | NF1 | umls:C0027831 | UNIPROT | The location and type of mutation within the NF1 gene, and its putative effect at the protein level, do not indicate any relationship to any specific clinical feature of NF1. | 0.670236159 | 2000 | NF1 | 17 | 31233115 | C | G,T |
| rs199474732 | 10336779 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatosis type 1 (NF1) is a dominant disorder caused by mutations in the NF1 gene; approximately 100 NF1 gene mutations have been published. | 0.670236159 | 1998 | NF1 | 17 | 31233115 | C | G,T |
| rs199474733 | 10220149 | 4763 | NF1 | umls:C0027831 | UNIPROT | We have identified a novel mutation L1425P in exon 25 of the NF1 gene in a 12-year-old boy (clinically diagnosed with NF1 at the age of 7). | 0.670236159 | 1999 | NF1 | 17 | 31259036 | T | C |
| rs199474734 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31163331 | T | C |
| rs199474735 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31200503 | T | C |
| rs199474736 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31200543 | A | T |
| rs199474737 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31219072 | T | C |
| rs199474737 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31219072 | T | C |
| rs199474738 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31225134 | G | A |
| rs199474740 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31232092 | A | G |
| rs199474741 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31233092 | T | G |
| rs199474742 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31235728 | C | G,T |
| rs199474743 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31260403 | A | G |
| rs199474744 | 15146469 | 4763 | NF1 | umls:C0027831 | UNIPROT | Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. | 0.670236159 | 2004 | NF1 | 17 | 31163367 | T | A |
| rs199474745 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227527 | G | C |
| rs199474746 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227536 | C | A |
| rs199474747 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31229155 | T | C |
| rs199474748 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31229158 | G | A |
| rs199474749 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31229887 | T | G |
| rs199474750 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31258502 | G | T |
| rs199474751 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31335026 | G | A |
| rs199474752 | 21838856 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibromatosis type 1 (NF1), a common autosomal dominant disorder affecting 1 in 3500 individuals. | 0.670236159 | 2011 | NF1 | 17 | 31163376 | G | C |
| rs199474756 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31181482 | T | C |
| rs199474757 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31214530 | A | G |
| rs199474758 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31221854 | T | C |
| rs199474759 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31223464 | T | C |
| rs199474760 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31223470 | A | G |
| rs199474761 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31226517 | T | C |
| rs199474762 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227254 | T | C,G |
| rs199474763 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227539 | A | C,T |
| rs199474764 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31232852 | A | G |
| rs199474765 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31235651 | G | C |
| rs199474766 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31265317 | A | G |
| rs199474773 | 9298829 | 4763 | NF1 | umls:C0027831 | UNIPROT | Six novel mutations in the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31200546 | A | G |
| rs199474774 | 12746402 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations and clinical spectrum in patients with spinal neurofibromas. | 0.670236159 | 2003 | NF1 | 17 | 31223455 | T | G |
| rs199474775 | 12746402 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations and clinical spectrum in patients with spinal neurofibromas. | 0.670236159 | 2003 | NF1 | 17 | 31229374 | T | C |
| rs199474776 | 12746402 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations and clinical spectrum in patients with spinal neurofibromas. | 0.670236159 | 2003 | NF1 | 17 | 31337837 | C | G |
| rs199474778 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31227549 | G | C |
| rs199474779 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31232825 | T | C |
| rs199474780 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31233083 | T | G |
| rs199474781 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31258501 | A | G |
| rs199474782 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31327583 | G | T |
| rs199474783 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31336360 | G | A |
| rs199474784 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31343015 | G | A |
| rs199474785 | 10980545 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. | 0.670236159 | 2000 | NF1 | 17 | 31229145 | C | T |
| rs199474786 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31229308 | T | C |
| rs199474787 | 7981679 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, caused by mutations in the NF-1 gene. | 0.670236159 | 1994 | NF1 | 17 | 31233002 | G | A |
| rs199474788 | 7981679 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, caused by mutations in the NF-1 gene. | 0.670236159 | 1994 | NF1 | 17 | 31258489 | A | G |
| rs199474789 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258401 | C | T |
| rs199474790 | 9003501 | 4763 | NF1 | umls:C0027831 | UNIPROT | Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31258488 | A | C |
| rs199474791 | 9101300 | 4763 | NF1 | umls:C0027831 | UNIPROT | Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31334879 | T | C |
| rs199474792 | 2114220 | 4763 | NF1 | umls:C0027831 | UNIPROT | A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. | 0.670236159 | 1990 | NF1 | 17 | 31334883 | T | C |
| rs199474792 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31334883 | T | C |
| rs199474793 | 8544190 | 4763 | NF1 | umls:C0027831 | UNIPROT | Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1995 | NF1 | 17 | 31357290 | A | G |
| rs267606595 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31334933 | A | T |
| rs267606596 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327741 | - | C |
| rs267606597 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327758 | - | T |
| rs267606598 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31337514 | T | A |
| rs267606599 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31230383 | G | A,T |
| rs267606600 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31219018 | AG | - |
| rs267606602 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31221842 | A | G |
| rs267606603 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31201486 | G | A |
| rs267606604 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31336328 | A | G |
| rs267606605 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327699 | - | T |
| rs267606606 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31229954 | AAT | - |
| rs267606990 | 19449407 | 5781 | PTPN11 | umls:C0027831 | BeFree | The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few café-au-lait spots as the only sign of neurofibromatosis. | 0.001900093 | 2009 | PTPN11;RPL6 | 12 | 112419116 | C | T |
| rs386626619 | 18623221 | 3717 | JAK2 | umls:C0027831 | BeFree | JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs397514640 | 17406642 | 5080 | PAX6 | umls:C0027831 | BeFree | A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of ocular neurofibromatosis. | 0.000271442 | 2007 | PAX6 | 11 | 31802733 | G | A |
| rs397514641 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31169985 | C | T |
| rs63750899 | 15139004 | 4292 | MLH1 | umls:C0027831 | BeFree | HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. | 0.001628651 | 2004 | MLH1 | 3 | 37048562 | C | T |
| rs768638173 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31226474 | C | T |
| rs771529172 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327719 | G | A,C,T |
| rs772295894 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31338739 | C | A,G |
| rs77375493 | 18623221 | 3717 | JAK2 | umls:C0027831 | BeFree | JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. | 0.000271442 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs786201367 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31357308 | C | T |
| rs786203390 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31260484 | G | C,T |
| rs786204059 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31223504 | AG | - |
| rs786204154 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31227260 | GCATTGA | - |
| rs786204157 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31259039 | A | G |
| rs786204207 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258504 | T | C |
| rs786204211 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31232879 | T | A |
| rs786204251 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31232841 | ACTC | - |
| rs786204253 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31233005 | T | G |
| rs786204255 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31223455 | - | T |
| rs797045139 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327718 | C | A,G,T |
