rs587776976
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587776976(C;T) |
Make rs587776976(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 31792765 |
Gene | DEPDC5 |
is a | snp |
is | mentioned by |
dbSNP | rs587776976 |
dbSNP (classic) | rs587776976 |
ClinGen | rs587776976 |
ebi | rs587776976 |
HLI | rs587776976 |
Exac | rs587776976 |
Gnomad | rs587776976 |
Varsome | rs587776976 |
LitVar | rs587776976 |
Map | rs587776976 |
PheGenI | rs587776976 |
Biobank | rs587776976 |
1000 genomes | rs587776976 |
hgdp | rs587776976 |
ensembl | rs587776976 |
geneview | rs587776976 |
scholar | rs587776976 |
rs587776976 | |
pharmgkb | rs587776976 |
gwascentral | rs587776976 |
openSNP | rs587776976 |
23andMe | rs587776976 |
SNPshot | rs587776976 |
SNPdbe | rs587776976 |
MSV3d | rs587776976 |
GWAS Ctlg | rs587776976 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776976(T;T) |
Alt | rs587776976(T;T) |
Reference | Rs587776976(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | DEPDC5 |
CLNDBN | Epilepsy, familial focal, with variable foci 1 |
Reversed | 0 |
HGVS | NC_000022.10:g.32188751C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043584.4, |