rs141813529
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs141813529(A;G) |
Make rs141813529(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 34449459 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs141813529 |
dbSNP (classic) | rs141813529 |
ClinGen | rs141813529 |
ebi | rs141813529 |
HLI | rs141813529 |
Exac | rs141813529 |
Gnomad | rs141813529 |
Varsome | rs141813529 |
LitVar | rs141813529 |
Map | rs141813529 |
PheGenI | rs141813529 |
Biobank | rs141813529 |
1000 genomes | rs141813529 |
hgdp | rs141813529 |
ensembl | rs141813529 |
geneview | rs141813529 |
scholar | rs141813529 |
rs141813529 | |
pharmgkb | rs141813529 |
gwascentral | rs141813529 |
openSNP | rs141813529 |
23andMe | rs141813529 |
SNPshot | rs141813529 |
SNPdbe | rs141813529 |
MSV3d | rs141813529 |
GWAS Ctlg | rs141813529 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141813529(G;G) |
Alt | rs141813529(G;G) |
Reference | Rs141813529(A;A) |
Significance | Untested |
Disease | Congenital long QT syndrome not specified |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | Congenital long QT syndrome not specified |
Reversed | 0 |
HGVS | NC_000021.8:g.35821757A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119071.2, RCV000455708.1, |
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.