rs3765097
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs3765097(C;T) |
Make rs3765097(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 237454457 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs3765097 |
dbSNP (classic) | rs3765097 |
ClinGen | rs3765097 |
ebi | rs3765097 |
HLI | rs3765097 |
Exac | rs3765097 |
Gnomad | rs3765097 |
Varsome | rs3765097 |
LitVar | rs3765097 |
Map | rs3765097 |
PheGenI | rs3765097 |
Biobank | rs3765097 |
1000 genomes | rs3765097 |
hgdp | rs3765097 |
ensembl | rs3765097 |
geneview | rs3765097 |
scholar | rs3765097 |
rs3765097 | |
pharmgkb | rs3765097 |
gwascentral | rs3765097 |
openSNP | rs3765097 |
23andMe | rs3765097 |
SNPshot | rs3765097 |
SNPdbe | rs3765097 |
MSV3d | rs3765097 |
GWAS Ctlg | rs3765097 |
Max Magnitude | 0 |
[PMID 24978818] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
ClinVar | |
---|---|
Risk | rs3765097(T;T) |
Alt | rs3765097(T;T) |
Reference | Rs3765097(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified Cardiovascular phenotype Cardiomyopathy, ARVC Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.237617757C>T |
CLNSRC | ClinVar |
CLNACC | RCV000036681.4, RCV000252560.1, RCV000306732.1, RCV000363710.1, |