rs777257591
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs777257591(C;G) |
Make rs777257591(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63442447 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs777257591 |
dbSNP (classic) | rs777257591 |
ClinGen | rs777257591 |
ebi | rs777257591 |
HLI | rs777257591 |
Exac | rs777257591 |
Gnomad | rs777257591 |
Varsome | rs777257591 |
LitVar | rs777257591 |
Map | rs777257591 |
PheGenI | rs777257591 |
Biobank | rs777257591 |
1000 genomes | rs777257591 |
hgdp | rs777257591 |
ensembl | rs777257591 |
geneview | rs777257591 |
scholar | rs777257591 |
rs777257591 | |
pharmgkb | rs777257591 |
gwascentral | rs777257591 |
openSNP | rs777257591 |
23andMe | rs777257591 |
SNPshot | rs777257591 |
SNPdbe | rs777257591 |
MSV3d | rs777257591 |
GWAS Ctlg | rs777257591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777257591(A;A) rs777257591(G;G) rs777257591(T;T) |
Alt | rs777257591(A;A) rs777257591(G;G) rs777257591(T;T) |
Reference | Rs777257591(C;C) |
Significance | Pathogenic |
Disease | Benign familial neonatal seizures 1 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Benign familial neonatal seizures 1 |
Reversed | 0 |
HGVS | NC_000020.10:g.62073800C>A |
CLNSRC | |
CLNACC | RCV000203593.1, |