rs199473403
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Romano-Ward Long QT Syndrome |
(T;T) | 0 | common in clinvar |
Make rs199473403(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2585237 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473403 |
dbSNP (classic) | rs199473403 |
ClinGen | rs199473403 |
ebi | rs199473403 |
HLI | rs199473403 |
Exac | rs199473403 |
Gnomad | rs199473403 |
Varsome | rs199473403 |
LitVar | rs199473403 |
Map | rs199473403 |
PheGenI | rs199473403 |
Biobank | rs199473403 |
1000 genomes | rs199473403 |
hgdp | rs199473403 |
ensembl | rs199473403 |
geneview | rs199473403 |
scholar | rs199473403 |
rs199473403 | |
pharmgkb | rs199473403 |
gwascentral | rs199473403 |
openSNP | rs199473403 |
23andMe | rs199473403 |
SNPshot | rs199473403 |
SNPdbe | rs199473403 |
MSV3d | rs199473403 |
GWAS Ctlg | rs199473403 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs199473403(C;C) |
Alt | rs199473403(C;C) |
Reference | Rs199473403(T;T) |
Significance | Pathogenic |
Disease | Long QT syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2606467T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000045949.2, RCV000057542.3, RCV000182166.1, |