rs34516117
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34516117(C;T) |
Make rs34516117(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2847771 |
Gene | KCNQ1, KCNQ1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs34516117 |
dbSNP (classic) | rs34516117 |
ClinGen | rs34516117 |
ebi | rs34516117 |
HLI | rs34516117 |
Exac | rs34516117 |
Gnomad | rs34516117 |
Varsome | rs34516117 |
LitVar | rs34516117 |
Map | rs34516117 |
PheGenI | rs34516117 |
Biobank | rs34516117 |
1000 genomes | rs34516117 |
hgdp | rs34516117 |
ensembl | rs34516117 |
geneview | rs34516117 |
scholar | rs34516117 |
rs34516117 | |
pharmgkb | rs34516117 |
gwascentral | rs34516117 |
openSNP | rs34516117 |
23andMe | rs34516117 |
SNPshot | rs34516117 |
SNPdbe | rs34516117 |
MSV3d | rs34516117 |
GWAS Ctlg | rs34516117 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34516117(T;T) |
Alt | rs34516117(T;T) |
Reference | Rs34516117(C;C) |
Significance | Untested |
Disease | Congenital long QT syndrome Long QT syndrome not specified Cardiovascular phenotype |
Variation | info |
Gene | KCNQ1-AS1 KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome not specified Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000011.9:g.2869001C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057641.3, RCV000148552.1, RCV000182231.2, RCV000242195.1, |