rs756762196
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs756762196(C;T) |
Make rs756762196(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 78425054 |
Gene | WWOX |
is a | snp |
is | mentioned by |
dbSNP | rs756762196 |
dbSNP (classic) | rs756762196 |
ClinGen | rs756762196 |
ebi | rs756762196 |
HLI | rs756762196 |
Exac | rs756762196 |
Gnomad | rs756762196 |
Varsome | rs756762196 |
LitVar | rs756762196 |
Map | rs756762196 |
PheGenI | rs756762196 |
Biobank | rs756762196 |
1000 genomes | rs756762196 |
hgdp | rs756762196 |
ensembl | rs756762196 |
geneview | rs756762196 |
scholar | rs756762196 |
rs756762196 | |
pharmgkb | rs756762196 |
gwascentral | rs756762196 |
openSNP | rs756762196 |
23andMe | rs756762196 |
SNPshot | rs756762196 |
SNPdbe | rs756762196 |
MSV3d | rs756762196 |
GWAS Ctlg | rs756762196 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756762196(T;T) |
Alt | rs756762196(T;T) |
Reference | Rs756762196(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy Spinocerebellar ataxia not provided |
Variation | info |
Gene | WWOX |
CLNDBN | Epileptic encephalopathy, early infantile, 1 Spinocerebellar ataxia, autosomal recessive 12 not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.78458951C>T |
CLNSRC | |
CLNACC | RCV000229073.2, RCV000486785.1, |