rs886037966
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs886037966(-;-) |
Make rs886037966(-;TC) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 50350584 |
Gene | CYB561D2, NPRL2 |
is a | snp |
is | mentioned by |
dbSNP | rs886037966 |
dbSNP (classic) | rs886037966 |
ClinGen | rs886037966 |
ebi | rs886037966 |
HLI | rs886037966 |
Exac | rs886037966 |
Gnomad | rs886037966 |
Varsome | rs886037966 |
LitVar | rs886037966 |
Map | rs886037966 |
PheGenI | rs886037966 |
Biobank | rs886037966 |
1000 genomes | rs886037966 |
hgdp | rs886037966 |
ensembl | rs886037966 |
geneview | rs886037966 |
scholar | rs886037966 |
rs886037966 | |
pharmgkb | rs886037966 |
gwascentral | rs886037966 |
openSNP | rs886037966 |
23andMe | rs886037966 |
SNPshot | rs886037966 |
SNPdbe | rs886037966 |
MSV3d | rs886037966 |
GWAS Ctlg | rs886037966 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037966(-;-) |
Alt | rs886037966(-;-) |
Reference | Rs886037966(TC;TC) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | CYB561D2 NPRL2 |
CLNDBN | Epilepsy, familial focal, with variable foci 2 |
Reversed | 1 |
HGVS | NC_000003.11:g.50388015_50388016delGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000241360.1, |