rs199473648
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199473648(C;T) |
Make rs199473648(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34370507 |
Gene | KCNE2, LOC105372791 |
is a | snp |
is | mentioned by |
dbSNP | rs199473648 |
dbSNP (classic) | rs199473648 |
ClinGen | rs199473648 |
ebi | rs199473648 |
HLI | rs199473648 |
Exac | rs199473648 |
Gnomad | rs199473648 |
Varsome | rs199473648 |
LitVar | rs199473648 |
Map | rs199473648 |
PheGenI | rs199473648 |
Biobank | rs199473648 |
1000 genomes | rs199473648 |
hgdp | rs199473648 |
ensembl | rs199473648 |
geneview | rs199473648 |
scholar | rs199473648 |
rs199473648 | |
pharmgkb | rs199473648 |
gwascentral | rs199473648 |
openSNP | rs199473648 |
23andMe | rs199473648 |
SNPshot | rs199473648 |
SNPdbe | rs199473648 |
MSV3d | rs199473648 |
GWAS Ctlg | rs199473648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473648(T;T) |
Alt | rs199473648(T;T) |
Reference | Rs199473648(C;C) |
Significance | Probable-Pathogenic |
Disease | Congenital long QT syndrome not provided Long QT syndrome not specified |
Variation | info |
Gene | KCNE2 |
CLNDBN | Congenital long QT syndrome not provided Long QT syndrome not specified |
Reversed | 0 |
HGVS | NC_000021.8:g.35742806C>T |
CLNSRC | ClinVar |
CLNACC | RCV000058373.3, RCV000170953.4, RCV000171565.1, RCV000218738.1, |