rs863224478
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863224478(-;GCCGCGCCAAGACCTTCCGCCTGAAGCTG) |
Make rs863224478(GCCGCGCCAAGACCTTCCGCCTGAAGCTG;GCCGCGCCAAGACCTTCCGCCTGAAGCTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150958473 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224478 |
dbSNP (classic) | rs863224478 |
ClinGen | rs863224478 |
ebi | rs863224478 |
HLI | rs863224478 |
Exac | rs863224478 |
Gnomad | rs863224478 |
Varsome | rs863224478 |
LitVar | rs863224478 |
Map | rs863224478 |
PheGenI | rs863224478 |
Biobank | rs863224478 |
1000 genomes | rs863224478 |
hgdp | rs863224478 |
ensembl | rs863224478 |
geneview | rs863224478 |
scholar | rs863224478 |
rs863224478 | |
pharmgkb | rs863224478 |
gwascentral | rs863224478 |
openSNP | rs863224478 |
23andMe | rs863224478 |
SNPshot | rs863224478 |
SNPdbe | rs863224478 |
MSV3d | rs863224478 |
GWAS Ctlg | rs863224478 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224478(GCCGCGCCAAGACCTTCCGCCTGAAGCTG;GCCGCGCCAAGACCTTCCGCCTGAAGCTG) |
Alt | rs863224478(GCCGCGCCAAGACCTTCCGCCTGAAGCTG;GCCGCGCCAAGACCTTCCGCCTGAAGCTG) |
Reference | Rs863224478(-;-) |
Significance | Pathogenic |
Disease | Long QT syndrome |
Variation | info |
Gene | KCNH2 |
CLNDBN | Long QT syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.150655562_150655590dup29 |
CLNSRC | |
CLNACC | RCV000198392.1, |