rs145229963
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145229963(A;A) |
Make rs145229963(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2588816 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs145229963 |
dbSNP (classic) | rs145229963 |
ClinGen | rs145229963 |
ebi | rs145229963 |
HLI | rs145229963 |
Exac | rs145229963 |
Gnomad | rs145229963 |
Varsome | rs145229963 |
LitVar | rs145229963 |
Map | rs145229963 |
PheGenI | rs145229963 |
Biobank | rs145229963 |
1000 genomes | rs145229963 |
hgdp | rs145229963 |
ensembl | rs145229963 |
geneview | rs145229963 |
scholar | rs145229963 |
rs145229963 | |
pharmgkb | rs145229963 |
gwascentral | rs145229963 |
openSNP | rs145229963 |
23andMe | rs145229963 |
SNPshot | rs145229963 |
SNPdbe | rs145229963 |
MSV3d | rs145229963 |
GWAS Ctlg | rs145229963 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145229963(A;A) rs145229963(T;T) |
Alt | rs145229963(A;A) rs145229963(T;T) |
Reference | Rs145229963(G;G) |
Significance | Pathogenic |
Disease | not provided not specified Cardiovascular phenotype Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation Jervell and Lange-Nielsen syndrome Short QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | not provided not specified Cardiovascular phenotype Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation Jervell and Lange-Nielsen syndrome short QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2610046G>A; NC_000011.9:g.2610046G>T |
CLNSRC | |
CLNACC | RCV000057583.3, RCV000182189.3, RCV000246256.1, RCV000284895.1, RCV000297971.1, RCV000337547.1, RCV000355198.1, RCV000398200.1, RCV000182318.1, |