rs397508111
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs397508111(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2528023 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508111 |
dbSNP (classic) | rs397508111 |
ClinGen | rs397508111 |
ebi | rs397508111 |
HLI | rs397508111 |
Exac | rs397508111 |
Gnomad | rs397508111 |
Varsome | rs397508111 |
LitVar | rs397508111 |
Map | rs397508111 |
PheGenI | rs397508111 |
Biobank | rs397508111 |
1000 genomes | rs397508111 |
hgdp | rs397508111 |
ensembl | rs397508111 |
geneview | rs397508111 |
scholar | rs397508111 |
rs397508111 | |
pharmgkb | rs397508111 |
gwascentral | rs397508111 |
openSNP | rs397508111 |
23andMe | rs397508111 |
SNPshot | rs397508111 |
SNPdbe | rs397508111 |
MSV3d | rs397508111 |
GWAS Ctlg | rs397508111 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs397508111(A;A) rs397508111(C;C) |
Alt | rs397508111(A;A) rs397508111(C;C) |
Reference | Rs397508111(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome not provided Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome not provided Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2549253G>A; NC_000011.9:g.2549253G>C |
CLNSRC | |
CLNACC | RCV000046061.3, RCV000182254.3, RCV000046062.2, RCV000493008.1, |