INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Insulin resistance - type A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1329693158
rs1329693158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342336
Disease:
Insulin resistance - type A 		0.010 GeneticVariation BEFREE These observations suggest that the homozygous Arg252-->His mutation is responsible for the type A insulin resistance of the proband, whereas in the heterozygous state, the mutation results in mild insulin resistance indistinguishable from that observed in noninsulin-dependent diabetes mellitus. 8530617 1995