rs1800171
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Romano-Ward Long QT Syndrome |
Make rs1800171(C;C) |
Make rs1800171(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2583545 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs1800171 |
dbSNP (classic) | rs1800171 |
ClinGen | rs1800171 |
ebi | rs1800171 |
HLI | rs1800171 |
Exac | rs1800171 |
Gnomad | rs1800171 |
Varsome | rs1800171 |
LitVar | rs1800171 |
Map | rs1800171 |
PheGenI | rs1800171 |
Biobank | rs1800171 |
1000 genomes | rs1800171 |
hgdp | rs1800171 |
ensembl | rs1800171 |
geneview | rs1800171 |
scholar | rs1800171 |
rs1800171 | |
pharmgkb | rs1800171 |
gwascentral | rs1800171 |
openSNP | rs1800171 |
23andMe | rs1800171 |
SNPshot | rs1800171 |
SNPdbe | rs1800171 |
MSV3d | rs1800171 |
GWAS Ctlg | rs1800171 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs1800171(A;A) rs1800171(C;C) |
Alt | rs1800171(A;A) rs1800171(C;C) |
Reference | Rs1800171(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Long QT syndrome not provided Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 Long QT syndrome not provided Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2604775G>A; NC_000011.9:g.2604775G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003283.4, RCV000045941.4, RCV000182159.3, RCV000045942.2, RCV000182160.1, |