rs118192246
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs118192246(-;GGGCC) |
Make rs118192246(GGGCC;GGGCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63406658 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs118192246 |
dbSNP (classic) | rs118192246 |
ClinGen | rs118192246 |
ebi | rs118192246 |
HLI | rs118192246 |
Exac | rs118192246 |
Gnomad | rs118192246 |
Varsome | rs118192246 |
LitVar | rs118192246 |
Map | rs118192246 |
PheGenI | rs118192246 |
Biobank | rs118192246 |
1000 genomes | rs118192246 |
hgdp | rs118192246 |
ensembl | rs118192246 |
geneview | rs118192246 |
scholar | rs118192246 |
rs118192246 | |
pharmgkb | rs118192246 |
gwascentral | rs118192246 |
openSNP | rs118192246 |
23andMe | rs118192246 |
SNPshot | rs118192246 |
SNPdbe | rs118192246 |
MSV3d | rs118192246 |
GWAS Ctlg | rs118192246 |
Merged from | Rs730882060 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192246(GGGCC;GGGCC) |
Alt | rs118192246(GGGCC;GGGCC) |
Reference | Rs118192246(-;-) |
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.62038007_62038011dupGGCCC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020990.1, |