rs587776906
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587776906(C;T) |
Make rs587776906(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 1727526 |
Gene | WDR81 |
is a | snp |
is | mentioned by |
dbSNP | rs587776906 |
dbSNP (classic) | rs587776906 |
ClinGen | rs587776906 |
ebi | rs587776906 |
HLI | rs587776906 |
Exac | rs587776906 |
Gnomad | rs587776906 |
Varsome | rs587776906 |
LitVar | rs587776906 |
Map | rs587776906 |
PheGenI | rs587776906 |
Biobank | rs587776906 |
1000 genomes | rs587776906 |
hgdp | rs587776906 |
ensembl | rs587776906 |
geneview | rs587776906 |
scholar | rs587776906 |
rs587776906 | |
pharmgkb | rs587776906 |
gwascentral | rs587776906 |
openSNP | rs587776906 |
23andMe | rs587776906 |
SNPshot | rs587776906 |
SNPdbe | rs587776906 |
MSV3d | rs587776906 |
GWAS Ctlg | rs587776906 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776906(T;T) |
Alt | rs587776906(T;T) |
Reference | Rs587776906(C;C) |
Significance | Pathogenic |
Disease | Cerebellar ataxia |
Variation | info |
Gene | WDR81 |
CLNDBN | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
Reversed | 0 |
HGVS | NC_000017.10:g.1630820C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024315.3, |