rs397508118
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GCGCT) | 5 | Romano-Ward Long QT Syndrome |
(GCGCT;GCGCT) | 0 | common in clinvar |
(GCTGC;GCTGC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397508118(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2570723 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508118 |
dbSNP (classic) | rs397508118 |
ClinGen | rs397508118 |
ebi | rs397508118 |
HLI | rs397508118 |
Exac | rs397508118 |
Gnomad | rs397508118 |
Varsome | rs397508118 |
LitVar | rs397508118 |
Map | rs397508118 |
PheGenI | rs397508118 |
Biobank | rs397508118 |
1000 genomes | rs397508118 |
hgdp | rs397508118 |
ensembl | rs397508118 |
geneview | rs397508118 |
scholar | rs397508118 |
rs397508118 | |
pharmgkb | rs397508118 |
gwascentral | rs397508118 |
openSNP | rs397508118 |
23andMe | rs397508118 |
SNPshot | rs397508118 |
SNPdbe | rs397508118 |
MSV3d | rs397508118 |
GWAS Ctlg | rs397508118 |
Merged from | Rs606231414 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs397508118(-;-) Rs397508118(GCTGC;GCTGC) rs397508118(TGCGC;TGCGC) |
Alt | rs397508118(-;-) Rs397508118(GCTGC;GCTGC) rs397508118(TGCGC;TGCGC) |
Reference | Rs397508118(GCGCT;GCGCT) |
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 | ClinVar |
CLNACC | RCV000046091.3, RCV000144973.1, RCV000182268.3, RCV000233139.2, |