rs199473362
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199473362(C;T) |
Make rs199473362(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34449343 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473362 |
dbSNP (classic) | rs199473362 |
ClinGen | rs199473362 |
ebi | rs199473362 |
HLI | rs199473362 |
Exac | rs199473362 |
Gnomad | rs199473362 |
Varsome | rs199473362 |
LitVar | rs199473362 |
Map | rs199473362 |
PheGenI | rs199473362 |
Biobank | rs199473362 |
1000 genomes | rs199473362 |
hgdp | rs199473362 |
ensembl | rs199473362 |
geneview | rs199473362 |
scholar | rs199473362 |
rs199473362 | |
pharmgkb | rs199473362 |
gwascentral | rs199473362 |
openSNP | rs199473362 |
23andMe | rs199473362 |
SNPshot | rs199473362 |
SNPdbe | rs199473362 |
MSV3d | rs199473362 |
GWAS Ctlg | rs199473362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473362(A;A) rs199473362(G;G) rs199473362(T;T) |
Alt | rs199473362(A;A) rs199473362(G;G) rs199473362(T;T) |
Reference | Rs199473362(C;C) |
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 | 1 |
HGVS | NC_000021.8:g.35821641G>A; NC_000021.8:g.35821641G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119088.2, RCV000171560.1, RCV000222068.1, |