rs199830292
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199830292(C;C) |
Make rs199830292(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 128916630 |
Gene | KCNJ5 |
is a | snp |
is | mentioned by |
dbSNP | rs199830292 |
dbSNP (classic) | rs199830292 |
ClinGen | rs199830292 |
ebi | rs199830292 |
HLI | rs199830292 |
Exac | rs199830292 |
Gnomad | rs199830292 |
Varsome | rs199830292 |
LitVar | rs199830292 |
Map | rs199830292 |
PheGenI | rs199830292 |
Biobank | rs199830292 |
1000 genomes | rs199830292 |
hgdp | rs199830292 |
ensembl | rs199830292 |
geneview | rs199830292 |
scholar | rs199830292 |
rs199830292 | |
pharmgkb | rs199830292 |
gwascentral | rs199830292 |
openSNP | rs199830292 |
23andMe | rs199830292 |
SNPshot | rs199830292 |
SNPdbe | rs199830292 |
MSV3d | rs199830292 |
GWAS Ctlg | rs199830292 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199830292(C;C) |
Alt | rs199830292(C;C) |
Reference | Rs199830292(G;G) |
Significance | Other |
Disease | Long QT syndrome 13 Andersen Tawil syndrome Familial hyperaldosteronism Romano-Ward syndrome |
Variation | info |
Gene | KCNJ5 |
CLNDBN | Long QT syndrome 13 Andersen Tawil syndrome Familial hyperaldosteronism Romano-Ward syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.128786525G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009405.4, RCV000193019.1, RCV000312115.1, RCV000366743.1, |