rs797044938
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044938(C;C) |
Make rs797044938(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63442529 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044938 |
dbSNP (classic) | rs797044938 |
ClinGen | rs797044938 |
ebi | rs797044938 |
HLI | rs797044938 |
Exac | rs797044938 |
Gnomad | rs797044938 |
Varsome | rs797044938 |
LitVar | rs797044938 |
Map | rs797044938 |
PheGenI | rs797044938 |
Biobank | rs797044938 |
1000 genomes | rs797044938 |
hgdp | rs797044938 |
ensembl | rs797044938 |
geneview | rs797044938 |
scholar | rs797044938 |
rs797044938 | |
pharmgkb | rs797044938 |
gwascentral | rs797044938 |
openSNP | rs797044938 |
23andMe | rs797044938 |
SNPshot | rs797044938 |
SNPdbe | rs797044938 |
MSV3d | rs797044938 |
GWAS Ctlg | rs797044938 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044938(C;C) rs797044938(T;T) |
Alt | rs797044938(C;C) rs797044938(T;T) |
Reference | Rs797044938(G;G) |
Significance | Pathogenic |
Disease | Seizures Inborn genetic diseases |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Seizures Inborn genetic diseases |
Reversed | 1 |
HGVS | NC_000020.10:g.62073882C>A; NC_000020.10:g.62073882C>G |
CLNSRC | |
CLNACC | RCV000192641.1, RCV000190782.1, |