rs121918598
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918598(C;C) |
Make rs121918598(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 237648523 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918598 |
dbSNP (classic) | rs121918598 |
ClinGen | rs121918598 |
ebi | rs121918598 |
HLI | rs121918598 |
Exac | rs121918598 |
Gnomad | rs121918598 |
Varsome | rs121918598 |
LitVar | rs121918598 |
Map | rs121918598 |
PheGenI | rs121918598 |
Biobank | rs121918598 |
1000 genomes | rs121918598 |
hgdp | rs121918598 |
ensembl | rs121918598 |
geneview | rs121918598 |
scholar | rs121918598 |
rs121918598 | |
pharmgkb | rs121918598 |
gwascentral | rs121918598 |
openSNP | rs121918598 |
23andMe | rs121918598 |
SNPshot | rs121918598 |
SNPdbe | rs121918598 |
MSV3d | rs121918598 |
GWAS Ctlg | rs121918598 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918598(A;A) rs121918598(C;C) |
Alt | rs121918598(A;A) rs121918598(C;C) |
Reference | Rs121918598(G;G) |
Significance | Pathogenic |
Disease | Ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | Ventricular tachycardia, catecholaminergic polymorphic, 1 |
Reversed | 0 |
HGVS | NC_000001.10:g.237811823G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013821.17, |