Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692232
rs1131692232
PUF60
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1372410554
rs1372410554
GLI1
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.010 GeneticVariation BEFREE Here, we report a novel missense variant in the fifth zinc finger domain of GLI3 (c.1826G>A; p.(Cys609Tyr)) initially identified in a proband with preaxial polydactyly type IV, developmental delay, sensorineural hearing loss, skeletal, and genitourinary anomalies. 28884880

2017