rs397508124
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CGTGGTCTT;CGTGGTCTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397508124(-;-) |
Make rs397508124(-;GTGGTCTTC) |
Make rs397508124(GTGGTCTTC;GTGGTCTTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2572089 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508124 |
dbSNP (classic) | rs397508124 |
ClinGen | rs397508124 |
ebi | rs397508124 |
HLI | rs397508124 |
Exac | rs397508124 |
Gnomad | rs397508124 |
Varsome | rs397508124 |
LitVar | rs397508124 |
Map | rs397508124 |
PheGenI | rs397508124 |
Biobank | rs397508124 |
1000 genomes | rs397508124 |
hgdp | rs397508124 |
ensembl | rs397508124 |
geneview | rs397508124 |
scholar | rs397508124 |
rs397508124 | |
pharmgkb | rs397508124 |
gwascentral | rs397508124 |
openSNP | rs397508124 |
23andMe | rs397508124 |
SNPshot | rs397508124 |
SNPdbe | rs397508124 |
MSV3d | rs397508124 |
GWAS Ctlg | rs397508124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508124(-;-) |
Alt | rs397508124(-;-) |
Reference | Rs397508124(CGTGGTCTT;CGTGGTCTT) |
Significance | Pathogenic |
Disease | Long QT syndrome Cardiac arrhythmia |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype Cardiac arrhythmia |
Reversed | 0 |
HGVS | NC_000011.9:g.2593319_2593327delGTGGTCTTC |
CLNSRC | |
CLNACC | RCV000046120.2, RCV000182332.1, |