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, |