rs2519184
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2519184(A;A) |
Make rs2519184(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 2848482 |
Gene | KCNQ1, KCNQ1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs2519184 |
dbSNP (classic) | rs2519184 |
ClinGen | rs2519184 |
ebi | rs2519184 |
HLI | rs2519184 |
Exac | rs2519184 |
Gnomad | rs2519184 |
Varsome | rs2519184 |
LitVar | rs2519184 |
Map | rs2519184 |
PheGenI | rs2519184 |
Biobank | rs2519184 |
1000 genomes | rs2519184 |
hgdp | rs2519184 |
ensembl | rs2519184 |
geneview | rs2519184 |
scholar | rs2519184 |
rs2519184 | |
pharmgkb | rs2519184 |
gwascentral | rs2519184 |
openSNP | rs2519184 |
23andMe | rs2519184 |
SNPshot | rs2519184 |
SNPdbe | rs2519184 |
MSV3d | rs2519184 |
GWAS Ctlg | rs2519184 |
Max Magnitude | 0 |
[PMID 27531917] Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
ClinVar | |
---|---|
Risk | rs2519184(A;A) |
Alt | rs2519184(A;A) |
Reference | Rs2519184(G;G) |
Significance | Non-pathogenic |
Disease | Long QT syndrome Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Short QT syndrome |
Variation | info |
Gene | KCNQ1-AS1 KCNQ1 |
CLNDBN | Long QT syndrome Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation short QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2869712G>A |
CLNSRC | |
CLNACC | RCV000278908.1, RCV000282640.1, RCV000336354.1, RCV000348924.1, RCV000374654.1, |