INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Acanthosis Nigricans ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913135
rs121913135
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0000889
Disease:
Acanthosis Nigricans 		0.010 GeneticVariation BEFREE Furthermore, a Japanese boy with insulin resistance and acanthosis nigricans was found to be heterozygous for a mutation of the insulin receptor gene that resulted in the replacement of glycine-996 with valine in the ATP binding site of the receptor. 31827016 2019
dbSNP: rs2963
rs2963
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0000889
Disease:
Acanthosis Nigricans 		0.010 GeneticVariation BEFREE The ancestral T allele of single nucleotide polymorphism rs2963 or the corresponding haplotype (GGTC-C) showed association with PCOS with odds ratio 2.99, 95% confidence interval 1.4-6.3, independent of obesity but related to the presence of Acanthosis nigricans and insulin resistance, metabolic syndrome, or hyperandrogeny, thus providing a frame for future fine mapping of the susceptibility loci in PCOS. 20493471 2010