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rs3194051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 >1.1x risk of type-1 diabetes
(A;G) 1 1.12x risk of type-1 diabetes
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome5
Position35876172
GeneIL7R
is asnp
is mentioned by
dbSNPrs3194051
ebirs3194051
HLIrs3194051
Exacrs3194051
Varsomers3194051
Maprs3194051
PheGenIrs3194051
hapmaprs3194051
1000 genomesrs3194051
hgdprs3194051
ensemblrs3194051
gopubmedrs3194051
geneviewrs3194051
scholarrs3194051
googlers3194051
pharmgkbrs3194051
gwascentralrs3194051
openSNPrs3194051
23andMers3194051
23andMe allrs3194051
SNP Nexus

SNPshotrs3194051
SNPdbers3194051
MSV3drs3194051
GWAS Ctlgrs3194051
GMAF0.2254
Max Magnitude1
? (A;A) (A;G) (G;G) 28
rs3194051, one of several SNPs in the IL7R gene, has been reported in a large study to be associated with type-1 diabetes.

In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 1.12 (CI 1.05–1.19). [PMID 17554260OA-icon.png]

Neighborrs987106
Distance681



GWAS snp
PMID [PMID 21297633OA-icon.png]
Trait
Title Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Risk Allele G
P-val 4E-8
Odds Ratio 1.0700 [1.02-1.12]

[PMID 18563381] Study of the association between the CAPSL-IL7R locus and type 1 diabetes.

[PMID 19221116OA-icon.png] Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.

[PMID 19359276OA-icon.png] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

[PMID 19956108OA-icon.png] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.


GET Evidence
IL7R-I356V
aa_change Ile356Val
aa_change_short I356V
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.294386
summary



ClinVar
Risk rs3194051(G;G)
Alt rs3194051(G;G)
Reference rs3194051(A;A)
Significance Untested
Disease not specified
Variation info
Gene IL7R
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.35876274A>G
CLNSRC ClinVar
CLNACC RCV000121222.1,