rs118192200
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs118192200(A;A) |
Make rs118192200(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63444729 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs118192200 |
dbSNP (classic) | rs118192200 |
ClinGen | rs118192200 |
ebi | rs118192200 |
HLI | rs118192200 |
Exac | rs118192200 |
Gnomad | rs118192200 |
Varsome | rs118192200 |
LitVar | rs118192200 |
Map | rs118192200 |
PheGenI | rs118192200 |
Biobank | rs118192200 |
1000 genomes | rs118192200 |
hgdp | rs118192200 |
ensembl | rs118192200 |
geneview | rs118192200 |
scholar | rs118192200 |
rs118192200 | |
pharmgkb | rs118192200 |
gwascentral | rs118192200 |
openSNP | rs118192200 |
23andMe | rs118192200 |
SNPshot | rs118192200 |
SNPdbe | rs118192200 |
MSV3d | rs118192200 |
GWAS Ctlg | rs118192200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192200(A;A) |
Alt | rs118192200(A;A) |
Reference | Rs118192200(G;G) |
Significance | Pathogenic |
Disease | Seizures Early infantile epileptic encephalopathy 7 not provided |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Seizures, benign familial neonatal, 1, and/or myokymia Early infantile epileptic encephalopathy 7 not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.62076082C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007815.2, RCV000021002.2, RCV000187863.1, |