rs79654911
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79654911(C;T) |
Make rs79654911(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34449435 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs79654911 |
dbSNP (classic) | rs79654911 |
ClinGen | rs79654911 |
ebi | rs79654911 |
HLI | rs79654911 |
Exac | rs79654911 |
Gnomad | rs79654911 |
Varsome | rs79654911 |
LitVar | rs79654911 |
Map | rs79654911 |
PheGenI | rs79654911 |
Biobank | rs79654911 |
1000 genomes | rs79654911 |
hgdp | rs79654911 |
ensembl | rs79654911 |
geneview | rs79654911 |
scholar | rs79654911 |
rs79654911 | |
pharmgkb | rs79654911 |
gwascentral | rs79654911 |
openSNP | rs79654911 |
23andMe | rs79654911 |
SNPshot | rs79654911 |
SNPdbe | rs79654911 |
MSV3d | rs79654911 |
GWAS Ctlg | rs79654911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79654911(A;A) rs79654911(T;T) |
Alt | rs79654911(A;A) rs79654911(T;T) |
Reference | Rs79654911(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Congenital long QT syndrome Long QT syndrome not specified |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | not provided Congenital long QT syndrome Long QT syndrome not specified |
Reversed | 0 |
HGVS | NC_000021.8:g.35821733C>A; NC_000021.8:g.35821733C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000482361.1, RCV000119073.2, RCV000148517.1, RCV000223718.1, RCV000413332.1, |