rs879255601
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs879255601(AA;AA) |
Make rs879255601(AA;CC) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 6 |
Position | 24658572 |
Gene | TDP2 |
is a | snp |
is | mentioned by |
dbSNP | rs879255601 |
dbSNP (classic) | rs879255601 |
ClinGen | rs879255601 |
ebi | rs879255601 |
HLI | rs879255601 |
Exac | rs879255601 |
Gnomad | rs879255601 |
Varsome | rs879255601 |
LitVar | rs879255601 |
Map | rs879255601 |
PheGenI | rs879255601 |
Biobank | rs879255601 |
1000 genomes | rs879255601 |
hgdp | rs879255601 |
ensembl | rs879255601 |
geneview | rs879255601 |
scholar | rs879255601 |
rs879255601 | |
pharmgkb | rs879255601 |
gwascentral | rs879255601 |
openSNP | rs879255601 |
23andMe | rs879255601 |
SNPshot | rs879255601 |
SNPdbe | rs879255601 |
MSV3d | rs879255601 |
GWAS Ctlg | rs879255601 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255601(AA;AA) |
Alt | rs879255601(AA;AA) |
Reference | Rs879255601(CC;CC) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | TDP2 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 23 |
Reversed | 1 |
HGVS | NC_000006.11:g.24658800_24658801delGGinsTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211707.1, |