rs730882253
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730882253(C;C) |
Make rs730882253(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 90403951 |
Gene | CALM1 |
is a | snp |
is | mentioned by |
dbSNP | rs730882253 |
dbSNP (classic) | rs730882253 |
ClinGen | rs730882253 |
ebi | rs730882253 |
HLI | rs730882253 |
Exac | rs730882253 |
Gnomad | rs730882253 |
Varsome | rs730882253 |
LitVar | rs730882253 |
Map | rs730882253 |
PheGenI | rs730882253 |
Biobank | rs730882253 |
1000 genomes | rs730882253 |
hgdp | rs730882253 |
ensembl | rs730882253 |
geneview | rs730882253 |
scholar | rs730882253 |
rs730882253 | |
pharmgkb | rs730882253 |
gwascentral | rs730882253 |
openSNP | rs730882253 |
23andMe | rs730882253 |
SNPshot | rs730882253 |
SNPdbe | rs730882253 |
MSV3d | rs730882253 |
GWAS Ctlg | rs730882253 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882253(C;C) |
Alt | rs730882253(C;C) |
Reference | Rs730882253(T;T) |
Significance | Pathogenic |
Disease | Long QT syndrome 14 |
Variation | info |
Gene | CALM1 |
CLNDBN | Long QT syndrome 14 |
Reversed | 0 |
HGVS | NC_000014.8:g.90870295T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000162064.3, |