rs148968498
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148968498(A;A) |
Make rs148968498(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34370558 |
Gene | KCNE2, LOC105372791 |
is a | snp |
is | mentioned by |
dbSNP | rs148968498 |
dbSNP (classic) | rs148968498 |
ClinGen | rs148968498 |
ebi | rs148968498 |
HLI | rs148968498 |
Exac | rs148968498 |
Gnomad | rs148968498 |
Varsome | rs148968498 |
LitVar | rs148968498 |
Map | rs148968498 |
PheGenI | rs148968498 |
Biobank | rs148968498 |
1000 genomes | rs148968498 |
hgdp | rs148968498 |
ensembl | rs148968498 |
geneview | rs148968498 |
scholar | rs148968498 |
rs148968498 | |
pharmgkb | rs148968498 |
gwascentral | rs148968498 |
openSNP | rs148968498 |
23andMe | rs148968498 |
SNPshot | rs148968498 |
SNPdbe | rs148968498 |
MSV3d | rs148968498 |
GWAS Ctlg | rs148968498 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148968498(A;A) |
Alt | rs148968498(A;A) |
Reference | Rs148968498(G;G) |
Significance | Untested |
Disease | Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNE2 |
CLNDBN | Congenital long QT syndrome Long QT syndrome |
Reversed | 0 |
HGVS | NC_000021.8:g.35742857G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058378.3, RCV000148520.1, |