rs118192222
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs118192222(-;-) |
Make rs118192222(-;AA) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63428391 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs118192222 |
dbSNP (classic) | rs118192222 |
ClinGen | rs118192222 |
ebi | rs118192222 |
HLI | rs118192222 |
Exac | rs118192222 |
Gnomad | rs118192222 |
Varsome | rs118192222 |
LitVar | rs118192222 |
Map | rs118192222 |
PheGenI | rs118192222 |
Biobank | rs118192222 |
1000 genomes | rs118192222 |
hgdp | rs118192222 |
ensembl | rs118192222 |
geneview | rs118192222 |
scholar | rs118192222 |
rs118192222 | |
pharmgkb | rs118192222 |
gwascentral | rs118192222 |
openSNP | rs118192222 |
23andMe | rs118192222 |
SNPshot | rs118192222 |
SNPdbe | rs118192222 |
MSV3d | rs118192222 |
GWAS Ctlg | rs118192222 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192222(-;-) |
Alt | rs118192222(-;-) |
Reference | Rs118192222(AA;AA) |
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.62059744_62059745delTT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020967.2, |