rs199939582
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199939582(A;A) |
Make rs199939582(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 115738350 |
Gene | CASQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs199939582 |
dbSNP (classic) | rs199939582 |
ClinGen | rs199939582 |
ebi | rs199939582 |
HLI | rs199939582 |
Exac | rs199939582 |
Gnomad | rs199939582 |
Varsome | rs199939582 |
LitVar | rs199939582 |
Map | rs199939582 |
PheGenI | rs199939582 |
Biobank | rs199939582 |
1000 genomes | rs199939582 |
hgdp | rs199939582 |
ensembl | rs199939582 |
geneview | rs199939582 |
scholar | rs199939582 |
rs199939582 | |
pharmgkb | rs199939582 |
gwascentral | rs199939582 |
openSNP | rs199939582 |
23andMe | rs199939582 |
SNPshot | rs199939582 |
SNPdbe | rs199939582 |
MSV3d | rs199939582 |
GWAS Ctlg | rs199939582 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199939582(A;A) rs199939582(C;C) |
Alt | rs199939582(A;A) rs199939582(C;C) |
Reference | Rs199939582(G;G) |
Significance | Other |
Disease | not specified Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | CASQ2 |
CLNDBN | not specified Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.116280971G>A; NC_000001.10:g.116280971G>C |
CLNSRC | |
CLNACC | RCV000037142.3, RCV000037141.3, RCV000260116.1, |