rs398124647
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398124647(A;T) |
Make rs398124647(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47161851 |
Gene | CALM2 |
is a | snp |
is | mentioned by |
dbSNP | rs398124647 |
dbSNP (classic) | rs398124647 |
ClinGen | rs398124647 |
ebi | rs398124647 |
HLI | rs398124647 |
Exac | rs398124647 |
Gnomad | rs398124647 |
Varsome | rs398124647 |
LitVar | rs398124647 |
Map | rs398124647 |
PheGenI | rs398124647 |
Biobank | rs398124647 |
1000 genomes | rs398124647 |
hgdp | rs398124647 |
ensembl | rs398124647 |
geneview | rs398124647 |
scholar | rs398124647 |
rs398124647 | |
pharmgkb | rs398124647 |
gwascentral | rs398124647 |
openSNP | rs398124647 |
23andMe | rs398124647 |
SNPshot | rs398124647 |
SNPdbe | rs398124647 |
MSV3d | rs398124647 |
GWAS Ctlg | rs398124647 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124647(G;G) rs398124647(T;T) |
Alt | rs398124647(G;G) rs398124647(T;T) |
Reference | Rs398124647(A;A) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Long QT syndrome 15 |
Variation | info |
Gene | CALM2 |
CLNDBN | Long QT syndrome 1 Long QT syndrome 15 |
Reversed | 1 |
HGVS | NC_000002.11:g.47388990T>A; NC_000002.11:g.47388990T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000143837.1, RCV000162068.3, RCV000143836.1, RCV000162067.3, |