INS, insulin, 3630

N. diseases: 405; N. variants: 37
Disease: Monogenic diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908260
rs121908260
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C3888631
Disease:
Monogenic diabetes 		0.010 GeneticVariation BEFREE The insulin gene mutation c.137G>A (R46Q), which changes an arginine at the B22 position of the mature hormone to glutamine, causes the monogenic diabetes variant maturity-onset diabetes of the young (MODY). 25423173 2014