rs138551008
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138551008(C;T) |
Make rs138551008(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2775977 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs138551008 |
dbSNP (classic) | rs138551008 |
ClinGen | rs138551008 |
ebi | rs138551008 |
HLI | rs138551008 |
Exac | rs138551008 |
Gnomad | rs138551008 |
Varsome | rs138551008 |
LitVar | rs138551008 |
Map | rs138551008 |
PheGenI | rs138551008 |
Biobank | rs138551008 |
1000 genomes | rs138551008 |
hgdp | rs138551008 |
ensembl | rs138551008 |
geneview | rs138551008 |
scholar | rs138551008 |
rs138551008 | |
pharmgkb | rs138551008 |
gwascentral | rs138551008 |
openSNP | rs138551008 |
23andMe | rs138551008 |
SNPshot | rs138551008 |
SNPdbe | rs138551008 |
MSV3d | rs138551008 |
GWAS Ctlg | rs138551008 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138551008(A;A) rs138551008(T;T) |
Alt | rs138551008(A;A) rs138551008(T;T) |
Reference | Rs138551008(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2797207C>A |
CLNSRC | ClinVar |
CLNACC | RCV000046004.2, RCV000182320.3, |