rs201675951
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201675951(A;A) |
Make rs201675951(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 237610770 |
Gene | RYR2 |
is a | snp |
is | mentioned by |
dbSNP | rs201675951 |
dbSNP (classic) | rs201675951 |
ClinGen | rs201675951 |
ebi | rs201675951 |
HLI | rs201675951 |
Exac | rs201675951 |
Gnomad | rs201675951 |
Varsome | rs201675951 |
LitVar | rs201675951 |
Map | rs201675951 |
PheGenI | rs201675951 |
Biobank | rs201675951 |
1000 genomes | rs201675951 |
hgdp | rs201675951 |
ensembl | rs201675951 |
geneview | rs201675951 |
scholar | rs201675951 |
rs201675951 | |
pharmgkb | rs201675951 |
gwascentral | rs201675951 |
openSNP | rs201675951 |
23andMe | rs201675951 |
SNPshot | rs201675951 |
SNPdbe | rs201675951 |
MSV3d | rs201675951 |
GWAS Ctlg | rs201675951 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201675951(A;A) |
Alt | rs201675951(A;A) |
Reference | Rs201675951(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy not specified |
Variation | info |
Gene | RYR2 |
CLNDBN | Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.237774070G>A |
CLNSRC | ClinVar |
CLNACC | RCV000143946.2, RCV000157455.1, RCV000182725.2, |