rs768241563
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs768241563(C;G) |
Make rs768241563(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 31754942 |
Gene | DEPDC5 |
is a | snp |
is | mentioned by |
dbSNP | rs768241563 |
dbSNP (classic) | rs768241563 |
ClinGen | rs768241563 |
ebi | rs768241563 |
HLI | rs768241563 |
Exac | rs768241563 |
Gnomad | rs768241563 |
Varsome | rs768241563 |
LitVar | rs768241563 |
Map | rs768241563 |
PheGenI | rs768241563 |
Biobank | rs768241563 |
1000 genomes | rs768241563 |
hgdp | rs768241563 |
ensembl | rs768241563 |
geneview | rs768241563 |
scholar | rs768241563 |
rs768241563 | |
pharmgkb | rs768241563 |
gwascentral | rs768241563 |
openSNP | rs768241563 |
23andMe | rs768241563 |
SNPshot | rs768241563 |
SNPdbe | rs768241563 |
MSV3d | rs768241563 |
GWAS Ctlg | rs768241563 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768241563(G;G) |
Alt | rs768241563(G;G) |
Reference | Rs768241563(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.32150928C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043579.4, |