rs879255234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879255234(-;-) |
Make rs879255234(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 31804202 |
Gene | DEPDC5 |
is a | snp |
is | mentioned by |
dbSNP | rs879255234 |
dbSNP (classic) | rs879255234 |
ClinGen | rs879255234 |
ebi | rs879255234 |
HLI | rs879255234 |
Exac | rs879255234 |
Gnomad | rs879255234 |
Varsome | rs879255234 |
LitVar | rs879255234 |
Map | rs879255234 |
PheGenI | rs879255234 |
Biobank | rs879255234 |
1000 genomes | rs879255234 |
hgdp | rs879255234 |
ensembl | rs879255234 |
geneview | rs879255234 |
scholar | rs879255234 |
rs879255234 | |
pharmgkb | rs879255234 |
gwascentral | rs879255234 |
openSNP | rs879255234 |
23andMe | rs879255234 |
SNPshot | rs879255234 |
SNPdbe | rs879255234 |
MSV3d | rs879255234 |
GWAS Ctlg | rs879255234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255234(-;-) |
Alt | rs879255234(-;-) |
Reference | Rs879255234(A;A) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | DEPDC5 |
CLNDBN | Epilepsy, familial focal, with variable foci 1 |
Reversed | 0 |
HGVS | NC_000022.10:g.32200188delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043583.4, |