Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514047
rs397514047
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		A 0.800 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013