rs74315390
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315390(A;A) |
Make rs74315390(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63439609 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315390 |
dbSNP (classic) | rs74315390 |
ClinGen | rs74315390 |
ebi | rs74315390 |
HLI | rs74315390 |
Exac | rs74315390 |
Gnomad | rs74315390 |
Varsome | rs74315390 |
LitVar | rs74315390 |
Map | rs74315390 |
PheGenI | rs74315390 |
Biobank | rs74315390 |
1000 genomes | rs74315390 |
hgdp | rs74315390 |
ensembl | rs74315390 |
geneview | rs74315390 |
scholar | rs74315390 |
rs74315390 | |
pharmgkb | rs74315390 |
gwascentral | rs74315390 |
openSNP | rs74315390 |
23andMe | rs74315390 |
SNPshot | rs74315390 |
SNPdbe | rs74315390 |
MSV3d | rs74315390 |
GWAS Ctlg | rs74315390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315390(A;A) rs74315390(C;C) |
Alt | rs74315390(A;A) rs74315390(C;C) |
Reference | Rs74315390(G;G) |
Significance | Pathogenic |
Disease | not provided Benign familial neonatal seizures 1 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | not provided Benign familial neonatal seizures 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.62070962C>G; NC_000020.10:g.62070962C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000187885.2, RCV000007807.3, |