rs199473646
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199473646(A;T) |
Make rs199473646(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34449426 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473646 |
dbSNP (classic) | rs199473646 |
ClinGen | rs199473646 |
ebi | rs199473646 |
HLI | rs199473646 |
Exac | rs199473646 |
Gnomad | rs199473646 |
Varsome | rs199473646 |
LitVar | rs199473646 |
Map | rs199473646 |
PheGenI | rs199473646 |
Biobank | rs199473646 |
1000 genomes | rs199473646 |
hgdp | rs199473646 |
ensembl | rs199473646 |
geneview | rs199473646 |
scholar | rs199473646 |
rs199473646 | |
pharmgkb | rs199473646 |
gwascentral | rs199473646 |
openSNP | rs199473646 |
23andMe | rs199473646 |
SNPshot | rs199473646 |
SNPdbe | rs199473646 |
MSV3d | rs199473646 |
GWAS Ctlg | rs199473646 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473646(T;T) |
Alt | rs199473646(T;T) |
Reference | Rs199473646(A;A) |
Significance | Untested |
Disease | Congenital long QT syndrome |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | Congenital long QT syndrome |
Reversed | 1 |
HGVS | NC_000021.8:g.35821724T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119075.2, |