rs118192238
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118192238(A;G) |
Make rs118192238(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63408538 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs118192238 |
dbSNP (classic) | rs118192238 |
ClinGen | rs118192238 |
ebi | rs118192238 |
HLI | rs118192238 |
Exac | rs118192238 |
Gnomad | rs118192238 |
Varsome | rs118192238 |
LitVar | rs118192238 |
Map | rs118192238 |
PheGenI | rs118192238 |
Biobank | rs118192238 |
1000 genomes | rs118192238 |
hgdp | rs118192238 |
ensembl | rs118192238 |
geneview | rs118192238 |
scholar | rs118192238 |
rs118192238 | |
pharmgkb | rs118192238 |
gwascentral | rs118192238 |
openSNP | rs118192238 |
23andMe | rs118192238 |
SNPshot | rs118192238 |
SNPdbe | rs118192238 |
MSV3d | rs118192238 |
GWAS Ctlg | rs118192238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192238(G;G) |
Alt | rs118192238(G;G) |
Reference | Rs118192238(A;A) |
Significance | Pathogenic |
Disease | Benign familial neonatal seizures 1 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Benign familial neonatal seizures 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.62039891T>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000021024.2, |