rs10754602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs10754602(A;A) |
Make rs10754602(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 237388076 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs10754602 |
dbSNP (classic) | rs10754602 |
ClinGen | rs10754602 |
ebi | rs10754602 |
HLI | rs10754602 |
Exac | rs10754602 |
Gnomad | rs10754602 |
Varsome | rs10754602 |
LitVar | rs10754602 |
Map | rs10754602 |
PheGenI | rs10754602 |
Biobank | rs10754602 |
1000 genomes | rs10754602 |
hgdp | rs10754602 |
ensembl | rs10754602 |
geneview | rs10754602 |
scholar | rs10754602 |
rs10754602 | |
pharmgkb | rs10754602 |
gwascentral | rs10754602 |
openSNP | rs10754602 |
23andMe | rs10754602 |
SNPshot | rs10754602 |
SNPdbe | rs10754602 |
MSV3d | rs10754602 |
GWAS Ctlg | rs10754602 |
Max Magnitude | 0 |
[PMID 24978818] RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
ClinVar | |
---|---|
Risk | rs10754602(A;A) rs10754602(C;C) |
Alt | rs10754602(A;A) rs10754602(C;C) |
Reference | Rs10754602(T;T) |
Significance | Probable-non-pathogenic |
Disease | not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia |
Variation | info |
Gene | RYR2 |
CLNDBN | not specified Cardiomyopathy, ARVC Catecholaminergic polymorphic ventricular tachycardia |
Reversed | 0 |
HGVS | NC_000001.10:g.237551376T>A |
CLNSRC | ClinVar |
CLNACC | RCV000036781.4, RCV000300385.1, RCV000357582.1, |