rs199472775
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199472775(A;T) |
Make rs199472775(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2587619 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472775 |
dbSNP (classic) | rs199472775 |
ClinGen | rs199472775 |
ebi | rs199472775 |
HLI | rs199472775 |
Exac | rs199472775 |
Gnomad | rs199472775 |
Varsome | rs199472775 |
LitVar | rs199472775 |
Map | rs199472775 |
PheGenI | rs199472775 |
Biobank | rs199472775 |
1000 genomes | rs199472775 |
hgdp | rs199472775 |
ensembl | rs199472775 |
geneview | rs199472775 |
scholar | rs199472775 |
rs199472775 | |
pharmgkb | rs199472775 |
gwascentral | rs199472775 |
openSNP | rs199472775 |
23andMe | rs199472775 |
SNPshot | rs199472775 |
SNPdbe | rs199472775 |
MSV3d | rs199472775 |
GWAS Ctlg | rs199472775 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472775(T;T) |
Alt | rs199472775(T;T) |
Reference | Rs199472775(A;A) |
Significance | Probable-Pathogenic |
Disease | Long QT syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2608849A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000045973.3, RCV000057569.3, RCV000218718.1, |