rs121434500
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434500(C;T) |
Make rs121434500(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 33410203 |
Gene | SNTA1 |
is a | snp |
is | mentioned by |
dbSNP | rs121434500 |
dbSNP (classic) | rs121434500 |
ClinGen | rs121434500 |
ebi | rs121434500 |
HLI | rs121434500 |
Exac | rs121434500 |
Gnomad | rs121434500 |
Varsome | rs121434500 |
LitVar | rs121434500 |
Map | rs121434500 |
PheGenI | rs121434500 |
Biobank | rs121434500 |
1000 genomes | rs121434500 |
hgdp | rs121434500 |
ensembl | rs121434500 |
geneview | rs121434500 |
scholar | rs121434500 |
rs121434500 | |
pharmgkb | rs121434500 |
gwascentral | rs121434500 |
openSNP | rs121434500 |
23andMe | rs121434500 |
SNPshot | rs121434500 |
SNPdbe | rs121434500 |
MSV3d | rs121434500 |
GWAS Ctlg | rs121434500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434500(T;T) |
Alt | rs121434500(T;T) |
Reference | Rs121434500(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome 12 not provided |
Variation | info |
Gene | SNTA1 |
CLNDBN | Long QT syndrome 12 not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.31998009G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008997.3, RCV000414434.1, |