Gene: SOS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 11868160

2002
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 11868160

2002
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 11868160

2002
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572

2006
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572

2006
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 16773572

2006
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. 17510059

2007
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. 17510059

2007
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. 17510059

2007
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. 18651097

2008
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. 18651097

2008
dbSNP: rs397517172
rs397517172
SOS1
C 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs397517174
rs397517174
SOS1
C 0.700 GeneticVariation CLINVAR Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. 18651097

2008
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855

2009