rs201868078
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201868078(A;A) |
Make rs201868078(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 20 |
Position | 63408524 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs201868078 |
dbSNP (classic) | rs201868078 |
ClinGen | rs201868078 |
ebi | rs201868078 |
HLI | rs201868078 |
Exac | rs201868078 |
Gnomad | rs201868078 |
Varsome | rs201868078 |
LitVar | rs201868078 |
Map | rs201868078 |
PheGenI | rs201868078 |
Biobank | rs201868078 |
1000 genomes | rs201868078 |
hgdp | rs201868078 |
ensembl | rs201868078 |
geneview | rs201868078 |
scholar | rs201868078 |
rs201868078 | |
pharmgkb | rs201868078 |
gwascentral | rs201868078 |
openSNP | rs201868078 |
23andMe | rs201868078 |
SNPshot | rs201868078 |
SNPdbe | rs201868078 |
MSV3d | rs201868078 |
GWAS Ctlg | rs201868078 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201868078(A;A) rs201868078(C;C) |
Alt | rs201868078(A;A) rs201868078(C;C) |
Reference | Rs201868078(G;G) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy Benign Rolandic epilepsy |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Early infantile epileptic encephalopathy Benign Rolandic epilepsy |
Reversed | 0 |
HGVS | NC_000020.10:g.62039877G>A; NC_000020.10:g.62039877G>C |
CLNSRC | |
CLNACC | RCV000477588.1, RCV000408737.1, |