rs606231414
From SNPedia
Merged into | rs397508118 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTGC;GCTGC) | 0 | common in clinvar |
Make rs606231414(-;-) |
Make rs606231414(-;TGCGC) |
Make rs606231414(TGCGC;TGCGC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 2570722 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231414 |
dbSNP (classic) | rs606231414 |
ClinGen | rs606231414 |
ebi | rs606231414 |
HLI | rs606231414 |
Exac | rs606231414 |
Gnomad | rs606231414 |
Varsome | rs606231414 |
LitVar | rs606231414 |
Map | rs606231414 |
PheGenI | rs606231414 |
Biobank | rs606231414 |
1000 genomes | rs606231414 |
hgdp | rs606231414 |
ensembl | rs606231414 |
geneview | rs606231414 |
scholar | rs606231414 |
rs606231414 | |
pharmgkb | rs606231414 |
gwascentral | rs606231414 |
openSNP | rs606231414 |
23andMe | rs606231414 |
SNPshot | rs606231414 |
SNPdbe | rs606231414 |
MSV3d | rs606231414 |
GWAS Ctlg | rs606231414 |
Status | Merged into rs397508118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs606231414(GCTGC;GCTGC) |
Significance | Pathogenic |
Disease | Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2591953_2591957delGCGCT |
CLNSRC | |
CLNACC | RCV000046091.3, RCV000144973.1, RCV000182268.2, RCV000233139.1, |