Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516030
rs1057516030
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1057518863
rs1057518863
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518960
rs1057518960
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567552713
rs1567552713
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907145
rs387907145
A 0.700 CausalMutation CLINVAR

dbSNP: rs557849165
rs557849165
T 0.700 CausalMutation CLINVAR

dbSNP: rs767978562
rs767978562
T 0.700 CausalMutation CLINVAR

dbSNP: rs780261665
rs780261665
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205124
rs786205124
CGG 0.700 CausalMutation CLINVAR

dbSNP: rs886039795
rs886039795
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
0.010 GeneticVariation BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049

1998

dbSNP: rs121913485
rs121913485
0.010 GeneticVariation BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049

1998