INS-IGF2, INS-IGF2 readthrough, 723961

N. diseases: 51; N. variants: 61
Disease: Diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908279
rs121908279
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE A heterozygous R6C mutation cosegregated with diabetes in a MODY family and is probably pathogenic, but the L68M substitution identified in a patient with young-onset type 2 diabetes may be a rare nonfunctional variant. 18162506 2008