rs886037965
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs886037965(C;C) |
Make rs886037965(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 50349690 |
Gene | CYB561D2, NPRL2 |
is a | snp |
is | mentioned by |
dbSNP | rs886037965 |
dbSNP (classic) | rs886037965 |
ClinGen | rs886037965 |
ebi | rs886037965 |
HLI | rs886037965 |
Exac | rs886037965 |
Gnomad | rs886037965 |
Varsome | rs886037965 |
LitVar | rs886037965 |
Map | rs886037965 |
PheGenI | rs886037965 |
Biobank | rs886037965 |
1000 genomes | rs886037965 |
hgdp | rs886037965 |
ensembl | rs886037965 |
geneview | rs886037965 |
scholar | rs886037965 |
rs886037965 | |
pharmgkb | rs886037965 |
gwascentral | rs886037965 |
openSNP | rs886037965 |
23andMe | rs886037965 |
SNPshot | rs886037965 |
SNPdbe | rs886037965 |
MSV3d | rs886037965 |
GWAS Ctlg | rs886037965 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037965(C;C) |
Alt | rs886037965(C;C) |
Reference | Rs886037965(T;T) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | NPRL2 CYB561D2 |
CLNDBN | Epilepsy, familial focal, with variable foci 2 |
Reversed | 1 |
HGVS | NC_000003.11:g.50387121A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000241152.1, |