rs369512347
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs369512347(A;G) |
Make rs369512347(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 237388129 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs369512347 |
dbSNP (classic) | rs369512347 |
ClinGen | rs369512347 |
ebi | rs369512347 |
HLI | rs369512347 |
Exac | rs369512347 |
Gnomad | rs369512347 |
Varsome | rs369512347 |
LitVar | rs369512347 |
Map | rs369512347 |
PheGenI | rs369512347 |
Biobank | rs369512347 |
1000 genomes | rs369512347 |
hgdp | rs369512347 |
ensembl | rs369512347 |
geneview | rs369512347 |
scholar | rs369512347 |
rs369512347 | |
pharmgkb | rs369512347 |
gwascentral | rs369512347 |
openSNP | rs369512347 |
23andMe | rs369512347 |
SNPshot | rs369512347 |
SNPdbe | rs369512347 |
MSV3d | rs369512347 |
GWAS Ctlg | rs369512347 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369512347(C;C) rs369512347(G;G) |
Alt | rs369512347(C;C) rs369512347(G;G) |
Reference | Rs369512347(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | RYR2 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.237551429A>C; NC_000001.10:g.237551429A>G |
CLNSRC | |
CLNACC | RCV000182664.1, RCV000036787.2, |