rs147445322
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147445322(A;A) |
Make rs147445322(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2847803 |
Gene | KCNQ1, KCNQ1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs147445322 |
dbSNP (classic) | rs147445322 |
ClinGen | rs147445322 |
ebi | rs147445322 |
HLI | rs147445322 |
Exac | rs147445322 |
Gnomad | rs147445322 |
Varsome | rs147445322 |
LitVar | rs147445322 |
Map | rs147445322 |
PheGenI | rs147445322 |
Biobank | rs147445322 |
1000 genomes | rs147445322 |
hgdp | rs147445322 |
ensembl | rs147445322 |
geneview | rs147445322 |
scholar | rs147445322 |
rs147445322 | |
pharmgkb | rs147445322 |
gwascentral | rs147445322 |
openSNP | rs147445322 |
23andMe | rs147445322 |
SNPshot | rs147445322 |
SNPdbe | rs147445322 |
MSV3d | rs147445322 |
GWAS Ctlg | rs147445322 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147445322(A;A) rs147445322(T;T) |
Alt | rs147445322(A;A) rs147445322(T;T) |
Reference | Rs147445322(G;G) |
Significance | Other |
Disease | Congenital long QT syndrome Long QT syndrome not specified |
Variation | info |
Gene | KCNQ1-AS1 KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome not specified |
Reversed | 0 |
HGVS | NC_000011.9:g.2869033G>A; NC_000011.9:g.2869033G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057643.3, RCV000148559.3, RCV000182235.3, RCV000057644.3, |