rs1801278

minus

Geno	Mag	Summary
(A;A)		reduced colorectal risk when combined with INSR SNP
(A;G)		reduced colorectal risk when combined with INSR SNP
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

2

Position

226795828

Gene

IRS1

is a	snp
is	mentioned by
dbSNP	rs1801278
dbSNP (classic)	rs1801278
ClinGen	rs1801278
ebi	rs1801278
HLI	rs1801278
Exac	rs1801278
Gnomad	rs1801278
Varsome	rs1801278
LitVar	rs1801278
Map	rs1801278
PheGenI	rs1801278
Biobank	rs1801278
1000 genomes	rs1801278
hgdp	rs1801278
ensembl	rs1801278
geneview	rs1801278
scholar	rs1801278
google	rs1801278
pharmgkb	rs1801278
gwascentral	rs1801278
openSNP	rs1801278
23andMe	rs1801278
SNPshot	rs1801278
SNPdbe	rs1801278
MSV3d	rs1801278
GWAS Ctlg	rs1801278

GMAF

0.05372

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 17914103] The INSR A-603G promoter rs1864010 SNP, which is located within a known Sp1-binding site, was associated with the risk of colorectal cancer, with carriers of the G allele having a decreased risk (odds ratios (OR) 0.71, 95% confidence interval (CI) 0.54-0.93). Carrying the variant allele of the IRS1 Gly972Arg rs1801278 SNP further decreased the risk among the INSR-603G allele carriers (OR 0.28, 95% CI 0.11-0.70)

[PMID 19124510 ] multiple myeloma

rs1801278 [C/T versus C/C genotypes; OR, 4.3; 95% confidence interval (CI), 1.5-12.1]
rs6684439 (T/T versus C/C; OR, 2.9; 95% CI, 1.2-7.0)
rs7529229 (C/C versus T/T; OR, 2.5; 95% CI, 1.1-6.0)
rs8192284 (C/C versus A/A; OR, 2.5, 95% CI, 1.1-6.0)

[PMID 21544032] Genetic and clinical risk factors of new-onset diabetes after transplantation in Hispanic kidney transplant recipients

[PMID 21645940] The rs1801278 G>A polymorphism of IRS-1 is associated with metabolic syndrome in healthy nondiabetic men. Modulation by cigarette smoking status

[PMID 22729394 ] A non-synonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

ClinVar
Risk	Rs1801278(A;A)
Alt	Rs1801278(A;A)
Reference	Rs1801278(G;G)
Significance	Other
Disease	Insulin resistance Coronary artery disease
Variation	info
Gene	IRS1
CLNDBN	Insulin resistance, susceptibility to Coronary artery disease, susceptibility to
Reversed	1
HGVS	NC_000002.11:g.227660544C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022624.2, RCV000022625.2,

[PMID 17570749 ] Genetic prediction of future type 2 diabetes.

[PMID 18398029] Genetic polymorphisms involved in insulin-like growth factor (IGF) pathway in relation to mammographic breast density and IGF levels.

[PMID 18398040 ] Transcription factor 7-like 2 polymorphism and colon cancer.

[PMID 18599530 ] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.

[PMID 18603647 ] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18992148 ] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

[PMID 18992263 ] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

[PMID 19843326 ] Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.

[PMID 19956100 ] No association of the IRS1 and PAX4 genes with type I diabetes.

[PMID 19956101 ] Overview of the Rapid Response data.

[PMID 19956109 ] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 20416077 ] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

[PMID 21834909] A replication study of the IRS1, CAPN10, TCF7L2, and PPARG gene polymorphisms associated with type 2 diabetes in two different populations of Mexico.

[PMID 23133645 ] The Interactive Effect of SIRT1 Promoter Region Polymorphism on Type 2 Diabetes Susceptibility in the North Indian Population

[PMID 23690305 ] Genetic variants and the risk of gestational diabetes mellitus: a systematic review

[PMID 23633196 ] Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis

[PMID 24071662 ] The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestry

[PMID 24371822 ] IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population

[PMID 24493031] Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population

[PMID 24589556] Arg972 insulin receptor substrate-1 polymorphism and risk and severity of Alzheimer's disease

[PMID 24612564] Association of IRS-1, CAPN10 and PPARG gene polymorphisms with T2DM in the high risk population of Hyderabad, India

[PMID 23107043 ] Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.

[PMID 23708959] Association between insulin receptor substrate 1 Gly972Arg polymorphism and cancer risk.

[PMID 25463099 ] Joint effect of insulin signaling genes on all-cause mortality

[PMID 26582067] Associations between two single-nucleotide polymorphisms (rs1801278 and rs2943641) of insulin receptor substrate 1 gene and type 2 diabetes susceptibility: a meta-analysis

[PMID 30319284 ] IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance.

[PMID 30649085 ] The effects of genetic variants related to insulin metabolism pathways and the interactions with lifestyles on colorectal cancer risk.

[PMID 31704287] Genetic variants in mTOR-pathway-related genes contribute to osteoarthritis susceptibility.