rs199473365
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473365(A;A) |
Make rs199473365(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34370708 |
Gene | KCNE2, LOC105372791 |
is a | snp |
is | mentioned by |
dbSNP | rs199473365 |
dbSNP (classic) | rs199473365 |
ClinGen | rs199473365 |
ebi | rs199473365 |
HLI | rs199473365 |
Exac | rs199473365 |
Gnomad | rs199473365 |
Varsome | rs199473365 |
LitVar | rs199473365 |
Map | rs199473365 |
PheGenI | rs199473365 |
Biobank | rs199473365 |
1000 genomes | rs199473365 |
hgdp | rs199473365 |
ensembl | rs199473365 |
geneview | rs199473365 |
scholar | rs199473365 |
rs199473365 | |
pharmgkb | rs199473365 |
gwascentral | rs199473365 |
openSNP | rs199473365 |
23andMe | rs199473365 |
SNPshot | rs199473365 |
SNPdbe | rs199473365 |
MSV3d | rs199473365 |
GWAS Ctlg | rs199473365 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473365(A;A) |
Alt | rs199473365(A;A) |
Reference | Rs199473365(G;G) |
Significance | Untested |
Disease | Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNE2 |
CLNDBN | Congenital long QT syndrome Long QT syndrome |
Reversed | 0 |
HGVS | NC_000021.8:g.35743007G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058369.3, RCV000148523.1, |