rs199472911
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199472911(A;C) |
Make rs199472911(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150952504 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs199472911 |
dbSNP (classic) | rs199472911 |
ClinGen | rs199472911 |
ebi | rs199472911 |
HLI | rs199472911 |
Exac | rs199472911 |
Gnomad | rs199472911 |
Varsome | rs199472911 |
LitVar | rs199472911 |
Map | rs199472911 |
PheGenI | rs199472911 |
Biobank | rs199472911 |
1000 genomes | rs199472911 |
hgdp | rs199472911 |
ensembl | rs199472911 |
geneview | rs199472911 |
scholar | rs199472911 |
rs199472911 | |
pharmgkb | rs199472911 |
gwascentral | rs199472911 |
openSNP | rs199472911 |
23andMe | rs199472911 |
SNPshot | rs199472911 |
SNPdbe | rs199472911 |
MSV3d | rs199472911 |
GWAS Ctlg | rs199472911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472911(C;C) rs199472911(G;G) rs199472911(T;T) |
Alt | rs199472911(C;C) rs199472911(G;G) rs199472911(T;T) |
Reference | Rs199472911(A;A) |
Significance | Probable-Pathogenic |
Disease | Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNH2 |
CLNDBN | Congenital long QT syndrome not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.150649592T>A; NC_000007.13:g.150649592T>C; NC_000007.13:g.150649592T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057916.3, RCV000057915.3, RCV000412722.1, RCV000057914.3, |