rs797044544
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044544(A;A) |
Make rs797044544(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 135778781 |
Gene | KCNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044544 |
dbSNP (classic) | rs797044544 |
ClinGen | rs797044544 |
ebi | rs797044544 |
HLI | rs797044544 |
Exac | rs797044544 |
Gnomad | rs797044544 |
Varsome | rs797044544 |
LitVar | rs797044544 |
Map | rs797044544 |
PheGenI | rs797044544 |
Biobank | rs797044544 |
1000 genomes | rs797044544 |
hgdp | rs797044544 |
ensembl | rs797044544 |
geneview | rs797044544 |
scholar | rs797044544 |
rs797044544 | |
pharmgkb | rs797044544 |
gwascentral | rs797044544 |
openSNP | rs797044544 |
23andMe | rs797044544 |
SNPshot | rs797044544 |
SNPdbe | rs797044544 |
MSV3d | rs797044544 |
GWAS Ctlg | rs797044544 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044544(A;A) rs797044544(C;C) |
Alt | rs797044544(A;A) rs797044544(C;C) |
Reference | Rs797044544(G;G) |
Significance | Pathogenic |
Disease | Epilepsy not provided |
Variation | info |
Gene | KCNT1 |
CLNDBN | Epilepsy, nocturnal frontal lobe, 5 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.138670627G>A; NC_000009.11:g.138670627G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000192060.2, RCV000425537.1, |