rs3194051
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 35876172 |
| Gene | IL7R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3194051 |
| dbSNP (classic) | rs3194051 |
| ClinGen | rs3194051 |
| ebi | rs3194051 |
| HLI | rs3194051 |
| Exac | rs3194051 |
| Gnomad | rs3194051 |
| Varsome | rs3194051 |
| LitVar | rs3194051 |
| Map | rs3194051 |
| PheGenI | rs3194051 |
| Biobank | rs3194051 |
| 1000 genomes | rs3194051 |
| hgdp | rs3194051 |
| ensembl | rs3194051 |
| geneview | rs3194051 |
| scholar | rs3194051 |
| rs3194051 | |
| pharmgkb | rs3194051 |
| gwascentral | rs3194051 |
| openSNP | rs3194051 |
| 23andMe | rs3194051 |
| SNPshot | rs3194051 |
| SNPdbe | rs3194051 |
| MSV3d | rs3194051 |
| GWAS Ctlg | rs3194051 |
| GMAF | 0.2254 |
| Max Magnitude | 1 |
| ? | (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 17554260
]
| GWAS snp | |
|---|---|
| PMID | [PMID 21297633]
|
| 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 19221116] Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
[PMID 19359276] 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 19956108] 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.
| ClinVar | |
|---|---|
| Risk | Rs3194051(G;G) |
| Alt | Rs3194051(G;G) |
| Reference | Rs3194051(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Severe Combined Immune Deficiency |
| Variation | info |
| Gene | IL7R |
| CLNDBN | not specified Severe Combined Immune Deficiency |
| Reversed | 0 |
| HGVS | NC_000005.9:g.35876274A>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000121222.1, RCV000284806.1, |
