rs786205812
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786205812(G;G) |
Make rs786205812(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 70175265 |
Gene | KCNJ2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205812 |
dbSNP (classic) | rs786205812 |
ClinGen | rs786205812 |
ebi | rs786205812 |
HLI | rs786205812 |
Exac | rs786205812 |
Gnomad | rs786205812 |
Varsome | rs786205812 |
LitVar | rs786205812 |
Map | rs786205812 |
PheGenI | rs786205812 |
Biobank | rs786205812 |
1000 genomes | rs786205812 |
hgdp | rs786205812 |
ensembl | rs786205812 |
geneview | rs786205812 |
scholar | rs786205812 |
rs786205812 | |
pharmgkb | rs786205812 |
gwascentral | rs786205812 |
openSNP | rs786205812 |
23andMe | rs786205812 |
SNPshot | rs786205812 |
SNPdbe | rs786205812 |
MSV3d | rs786205812 |
GWAS Ctlg | rs786205812 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205812(G;G) |
Alt | rs786205812(G;G) |
Reference | Rs786205812(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Andersen Tawil syndrome Short QT syndrome 3 |
Variation | info |
Gene | KCNJ2 |
CLNDBN | not provided Andersen Tawil syndrome Short QT syndrome 3 |
Reversed | 0 |
HGVS | NC_000017.10:g.68171406T>G |
CLNSRC | |
CLNACC | RCV000170974.4, RCV000471851.1, |