rs730882254
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730882254(A;T) |
Make rs730882254(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47161857 |
Gene | CALM2 |
is a | snp |
is | mentioned by |
dbSNP | rs730882254 |
dbSNP (classic) | rs730882254 |
ClinGen | rs730882254 |
ebi | rs730882254 |
HLI | rs730882254 |
Exac | rs730882254 |
Gnomad | rs730882254 |
Varsome | rs730882254 |
LitVar | rs730882254 |
Map | rs730882254 |
PheGenI | rs730882254 |
Biobank | rs730882254 |
1000 genomes | rs730882254 |
hgdp | rs730882254 |
ensembl | rs730882254 |
geneview | rs730882254 |
scholar | rs730882254 |
rs730882254 | |
pharmgkb | rs730882254 |
gwascentral | rs730882254 |
openSNP | rs730882254 |
23andMe | rs730882254 |
SNPshot | rs730882254 |
SNPdbe | rs730882254 |
MSV3d | rs730882254 |
GWAS Ctlg | rs730882254 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882254(T;T) |
Alt | rs730882254(T;T) |
Reference | Rs730882254(A;A) |
Significance | Pathogenic |
Disease | Long QT syndrome 15 |
Variation | info |
Gene | CALM2 |
CLNDBN | Long QT syndrome 15 |
Reversed | 1 |
HGVS | NC_000002.11:g.47388996T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162065.3, |