Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912430
rs121912430
Insulin-Like Growth Factor I Deficiency
T 0.700 CausalMutation CLINVAR

dbSNP: rs587779350
rs587779350
Insulin-Like Growth Factor I Deficiency
A 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014