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: rs1057524907
rs1057524907
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C3888631
Disease:
Monogenic diabetes 		C 0.700 GeneticVariation CLINVAR INS-gene mutations: from genetics and beta cell biology to clinical disease. 25542748 2015
dbSNP: rs1057524907
rs1057524907
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C3888631
Disease:
Monogenic diabetes 		C 0.700 GeneticVariation CLINVAR Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). 20226046 2010
dbSNP: rs1057524907
rs1057524907
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C3888631
Disease:
Monogenic diabetes 		C 0.700 GeneticVariation CLINVAR Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 18192540 2008
dbSNP: rs1057524907
rs1057524907
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C3888631
Disease:
Monogenic diabetes 		C 0.700 GeneticVariation CLINVAR Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 18162506 2008
dbSNP: rs1057524907
rs1057524907
Entrez Id: 3630;723961
Gene Symbol: INS;INS-IGF2
INS;INS-IGF2
CUI: C3888631
Disease:
Monogenic diabetes 		C 0.700 GeneticVariation CLINVAR Insulin gene mutations as a cause of permanent neonatal diabetes. 17855560 2007
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