Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson
0.810 GeneticVariation BEFREE Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 18247426 2008
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson
0.810 GeneticVariation UNIPROT Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. 12000365 2002
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson
0.810 GeneticVariation UNIPROT Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
dbSNP: rs121913477
rs121913477
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson
C 0.810 CausalMutation CLINVAR