rs775918190
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs775918190(A;A) |
Make rs775918190(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63439610 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs775918190 |
dbSNP (classic) | rs775918190 |
ClinGen | rs775918190 |
ebi | rs775918190 |
HLI | rs775918190 |
Exac | rs775918190 |
Gnomad | rs775918190 |
Varsome | rs775918190 |
LitVar | rs775918190 |
Map | rs775918190 |
PheGenI | rs775918190 |
Biobank | rs775918190 |
1000 genomes | rs775918190 |
hgdp | rs775918190 |
ensembl | rs775918190 |
geneview | rs775918190 |
scholar | rs775918190 |
rs775918190 | |
pharmgkb | rs775918190 |
gwascentral | rs775918190 |
openSNP | rs775918190 |
23andMe | rs775918190 |
SNPshot | rs775918190 |
SNPdbe | rs775918190 |
MSV3d | rs775918190 |
GWAS Ctlg | rs775918190 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775918190(A;A) rs775918190(T;T) |
Alt | rs775918190(A;A) rs775918190(T;T) |
Reference | Rs775918190(G;G) |
Significance | Pathogenic |
Disease | not provided Early infantile epileptic encephalopathy 7 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | not provided Early infantile epileptic encephalopathy 7 |
Reversed | 0 |
HGVS | NC_000020.10:g.62070963G>T |
CLNSRC | |
CLNACC | RCV000187884.2, RCV000408682.1, |