rs144022753
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144022753(C;T) |
Make rs144022753(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 70176238 |
Gene | KCNJ2 |
is a | snp |
is | mentioned by |
dbSNP | rs144022753 |
dbSNP (classic) | rs144022753 |
ClinGen | rs144022753 |
ebi | rs144022753 |
HLI | rs144022753 |
Exac | rs144022753 |
Gnomad | rs144022753 |
Varsome | rs144022753 |
LitVar | rs144022753 |
Map | rs144022753 |
PheGenI | rs144022753 |
Biobank | rs144022753 |
1000 genomes | rs144022753 |
hgdp | rs144022753 |
ensembl | rs144022753 |
geneview | rs144022753 |
scholar | rs144022753 |
rs144022753 | |
pharmgkb | rs144022753 |
gwascentral | rs144022753 |
openSNP | rs144022753 |
23andMe | rs144022753 |
SNPshot | rs144022753 |
SNPdbe | rs144022753 |
MSV3d | rs144022753 |
GWAS Ctlg | rs144022753 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144022753(G;G) rs144022753(T;T) |
Alt | rs144022753(G;G) rs144022753(T;T) |
Reference | Rs144022753(C;C) |
Significance | Probable-Pathogenic |
Disease | Long QT syndrome not provided |
Variation | info |
Gene | KCNJ2 |
CLNDBN | Long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.68172379C>T |
CLNSRC | |
CLNACC | RCV000148542.1, RCV000170991.3, |