rs387906290
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs387906290(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2583434 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906290 |
dbSNP (classic) | rs387906290 |
ClinGen | rs387906290 |
ebi | rs387906290 |
HLI | rs387906290 |
Exac | rs387906290 |
Gnomad | rs387906290 |
Varsome | rs387906290 |
LitVar | rs387906290 |
Map | rs387906290 |
PheGenI | rs387906290 |
Biobank | rs387906290 |
1000 genomes | rs387906290 |
hgdp | rs387906290 |
ensembl | rs387906290 |
geneview | rs387906290 |
scholar | rs387906290 |
rs387906290 | |
pharmgkb | rs387906290 |
gwascentral | rs387906290 |
openSNP | rs387906290 |
23andMe | rs387906290 |
SNPshot | rs387906290 |
SNPdbe | rs387906290 |
MSV3d | rs387906290 |
GWAS Ctlg | rs387906290 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs387906290(A;A) rs387906290(C;C) |
Alt | rs387906290(A;A) rs387906290(C;C) |
Reference | Rs387906290(G;G) |
Significance | Pathogenic |
Disease | not provided Long QT syndrome 1 Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | not provided Long QT syndrome 1 Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2604664G>A; NC_000011.9:g.2604664G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412764.1, RCV000003282.2, RCV000046158.2, |