rs144917638
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs144917638(A;A) |
Make rs144917638(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34449606 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs144917638 |
dbSNP (classic) | rs144917638 |
ClinGen | rs144917638 |
ebi | rs144917638 |
HLI | rs144917638 |
Exac | rs144917638 |
Gnomad | rs144917638 |
Varsome | rs144917638 |
LitVar | rs144917638 |
Map | rs144917638 |
PheGenI | rs144917638 |
Biobank | rs144917638 |
1000 genomes | rs144917638 |
hgdp | rs144917638 |
ensembl | rs144917638 |
geneview | rs144917638 |
scholar | rs144917638 |
rs144917638 | |
pharmgkb | rs144917638 |
gwascentral | rs144917638 |
openSNP | rs144917638 |
23andMe | rs144917638 |
SNPshot | rs144917638 |
SNPdbe | rs144917638 |
MSV3d | rs144917638 |
GWAS Ctlg | rs144917638 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144917638(A;A) |
Alt | rs144917638(A;A) |
Reference | Rs144917638(G;G) |
Significance | Other |
Disease | Congenital long QT syndrome Long QT syndrome not specified |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome not specified |
Reversed | 0 |
HGVS | NC_000021.8:g.35821904G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119089.2, RCV000148515.2, RCV000208391.1, |