rs695871
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs695871(C;G) |
| Make rs695871(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 111599196 |
| Gene | ATXN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs695871 |
| dbSNP (classic) | rs695871 |
| ClinGen | rs695871 |
| ebi | rs695871 |
| HLI | rs695871 |
| Exac | rs695871 |
| Gnomad | rs695871 |
| Varsome | rs695871 |
| LitVar | rs695871 |
| Map | rs695871 |
| PheGenI | rs695871 |
| Biobank | rs695871 |
| 1000 genomes | rs695871 |
| hgdp | rs695871 |
| ensembl | rs695871 |
| geneview | rs695871 |
| scholar | rs695871 |
| rs695871 | |
| pharmgkb | rs695871 |
| gwascentral | rs695871 |
| openSNP | rs695871 |
| 23andMe | rs695871 |
| SNPshot | rs695871 |
| SNPdbe | rs695871 |
| MSV3d | rs695871 |
| GWAS Ctlg | rs695871 |
| GMAF | 0.4587 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 16205789
] Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.
[PMID 20016785] Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.
| ClinVar | |
|---|---|
| Risk | rs695871(G;G) |
| Alt | rs695871(G;G) |
| Reference | Rs695871(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | ATXN2 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000012.11:g.112037000G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116477.2, |
