rs138358708
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs138358708(C;T) |
Make rs138358708(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 1731098 |
Gene | WDR81 |
is a | snp |
is | mentioned by |
dbSNP | rs138358708 |
dbSNP (classic) | rs138358708 |
ClinGen | rs138358708 |
ebi | rs138358708 |
HLI | rs138358708 |
Exac | rs138358708 |
Gnomad | rs138358708 |
Varsome | rs138358708 |
LitVar | rs138358708 |
Map | rs138358708 |
PheGenI | rs138358708 |
Biobank | rs138358708 |
1000 genomes | rs138358708 |
hgdp | rs138358708 |
ensembl | rs138358708 |
geneview | rs138358708 |
scholar | rs138358708 |
rs138358708 | |
pharmgkb | rs138358708 |
gwascentral | rs138358708 |
openSNP | rs138358708 |
23andMe | rs138358708 |
SNPshot | rs138358708 |
SNPdbe | rs138358708 |
MSV3d | rs138358708 |
GWAS Ctlg | rs138358708 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138358708(T;T) |
Alt | rs138358708(T;T) |
Reference | Rs138358708(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.1634392C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210424.1, |