rs3747517

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs3747517(A;G)

Make rs3747517(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

162272314

Gene

IFIH1

is a	snp
is	mentioned by
dbSNP	rs3747517
dbSNP (classic)	rs3747517
ClinGen	rs3747517
ebi	rs3747517
HLI	rs3747517
Exac	rs3747517
Gnomad	rs3747517
Varsome	rs3747517
LitVar	rs3747517
Map	rs3747517
PheGenI	rs3747517
Biobank	rs3747517
1000 genomes	rs3747517
hgdp	rs3747517
ensembl	rs3747517
geneview	rs3747517
scholar	rs3747517
google	rs3747517
pharmgkb	rs3747517
gwascentral	rs3747517
openSNP	rs3747517
23andMe	rs3747517
SNPshot	rs3747517
SNPdbe	rs3747517
MSV3d	rs3747517
GWAS Ctlg	rs3747517

GMAF

0.3912

Max Magnitude

0

?

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

28

[PMID 19450885] Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1

[PMID 18071670] The association between the IFIH1 locus and type 1 diabetes.

[PMID 18927125 ] IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.

[PMID 19264985 ] Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

[PMID 19374514 ] Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines.

[PMID 19956101 ] Overview of the Rapid Response data.

[PMID 19956106 ] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

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

[PMID 22053898] IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population.

[PMID 22152027] Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis.

[PMID 22789000] Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease

[PMID 23535865] Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility

[PMID 24960033] Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population

[PMID 25337792 ] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population

[PMID 25515714] Cumulative effect of IFIH1 variants and increased gene expression associated with type 1 diabetes

ClinVar
Risk	rs3747517(G;G)
Alt	rs3747517(G;G)
Reference	Rs3747517(A;A)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	IFIH1
CLNDBN	not specified
Reversed	1
HGVS	NC_000002.11:g.163128824T>C
CLNSRC
CLNACC	RCV000253451.1,

[PMID 29930297 ] Autoimmune disease associated IFIH1 single nucleotide polymorphism related with IL-18 serum levels in Chinese systemic lupus erythematosus patients.