INS, insulin, 3630

N. diseases: 405; N. variants: 37
Disease: Diabetes Mellitus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356664
rs80356664
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE We identified one missense mutation (G32S) in the INS gene and two mutations (R131Q and R203S) in the HNF1α gene that could be associated with diabetes. 27398945 2016
dbSNP: rs121908261
rs121908261
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE In type 1 diabetic patients, we found the INS mutation c.163C>T (R55C) in a girl who at 10 years of age presented with ketoacidosis and insulin-dependent, GAD, and insulinoma-associated antigen-2 (IA-2) antibody-negative diabetes. 18192540 2008
dbSNP: rs121908279
rs121908279
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C0011849
Disease:
Diabetes Mellitus 		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