rs4678
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4678(C;T) |
| Make rs4678(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 30926164 |
| Gene | VARS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4678 |
| dbSNP (classic) | rs4678 |
| ClinGen | rs4678 |
| ebi | rs4678 |
| HLI | rs4678 |
| Exac | rs4678 |
| Gnomad | rs4678 |
| Varsome | rs4678 |
| LitVar | rs4678 |
| Map | rs4678 |
| PheGenI | rs4678 |
| Biobank | rs4678 |
| 1000 genomes | rs4678 |
| hgdp | rs4678 |
| ensembl | rs4678 |
| geneview | rs4678 |
| scholar | rs4678 |
| rs4678 | |
| pharmgkb | rs4678 |
| gwascentral | rs4678 |
| openSNP | rs4678 |
| 23andMe | rs4678 |
| SNPshot | rs4678 |
| SNPdbe | rs4678 |
| MSV3d | rs4678 |
| GWAS Ctlg | rs4678 |
| GMAF | 0.112 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs4678 is a SNP representing an Arg/Gln variation in the VARS2L gene.
A study of 855 rheumatoid arthritis patients concluded that rs4678 was one of only two SNPs representing an additional susceptibility gene - in addition to HLA-DRB1 - within the MHC region.[PMID 19116923]
There is some inconsistency in this SNP. The reference assembly considers it a A/G while RefSNP calls it a C/T.
[PMID 18204098] Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
| ClinVar | |
|---|---|
| Risk | rs4678(T;T) |
| Alt | rs4678(T;T) |
| Reference | Rs4678(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | VARS2 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000006.11:g.30893941G>A |
| CLNSRC | |
| CLNACC | RCV000439193.1, |
