rs397508130
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397508130(G;T) |
Make rs397508130(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572987 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508130 |
dbSNP (classic) | rs397508130 |
ClinGen | rs397508130 |
ebi | rs397508130 |
HLI | rs397508130 |
Exac | rs397508130 |
Gnomad | rs397508130 |
Varsome | rs397508130 |
LitVar | rs397508130 |
Map | rs397508130 |
PheGenI | rs397508130 |
Biobank | rs397508130 |
1000 genomes | rs397508130 |
hgdp | rs397508130 |
ensembl | rs397508130 |
geneview | rs397508130 |
scholar | rs397508130 |
rs397508130 | |
pharmgkb | rs397508130 |
gwascentral | rs397508130 |
openSNP | rs397508130 |
23andMe | rs397508130 |
SNPshot | rs397508130 |
SNPdbe | rs397508130 |
MSV3d | rs397508130 |
GWAS Ctlg | rs397508130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508130(T;T) |
Alt | rs397508130(T;T) |
Reference | Rs397508130(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2594217G>T |
CLNSRC | ClinVar |
CLNACC | RCV000046155.2, RCV000182134.1, |