rs199473545
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199473545(C;T) |
Make rs199473545(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150946929 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs199473545 |
dbSNP (classic) | rs199473545 |
ClinGen | rs199473545 |
ebi | rs199473545 |
HLI | rs199473545 |
Exac | rs199473545 |
Gnomad | rs199473545 |
Varsome | rs199473545 |
LitVar | rs199473545 |
Map | rs199473545 |
PheGenI | rs199473545 |
Biobank | rs199473545 |
1000 genomes | rs199473545 |
hgdp | rs199473545 |
ensembl | rs199473545 |
geneview | rs199473545 |
scholar | rs199473545 |
rs199473545 | |
pharmgkb | rs199473545 |
gwascentral | rs199473545 |
openSNP | rs199473545 |
23andMe | rs199473545 |
SNPshot | rs199473545 |
SNPdbe | rs199473545 |
MSV3d | rs199473545 |
GWAS Ctlg | rs199473545 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473545(G;G) rs199473545(T;T) |
Alt | rs199473545(G;G) rs199473545(T;T) |
Reference | Rs199473545(C;C) |
Significance | Untested |
Disease | Congenital long QT syndrome not specified |
Variation | info |
Gene | KCNH2 |
CLNDBN | Congenital long QT syndrome not specified |
Reversed | 1 |
HGVS | NC_000007.13:g.150644017G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058214.3, RCV000223703.1, |