rs797045932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045932(-;-) |
Make rs797045932(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 38460519 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045932 |
dbSNP (classic) | rs797045932 |
ClinGen | rs797045932 |
ebi | rs797045932 |
HLI | rs797045932 |
Exac | rs797045932 |
Gnomad | rs797045932 |
Varsome | rs797045932 |
LitVar | rs797045932 |
Map | rs797045932 |
PheGenI | rs797045932 |
Biobank | rs797045932 |
1000 genomes | rs797045932 |
hgdp | rs797045932 |
ensembl | rs797045932 |
geneview | rs797045932 |
scholar | rs797045932 |
rs797045932 | |
pharmgkb | rs797045932 |
gwascentral | rs797045932 |
openSNP | rs797045932 |
23andMe | rs797045932 |
SNPshot | rs797045932 |
SNPdbe | rs797045932 |
MSV3d | rs797045932 |
GWAS Ctlg | rs797045932 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045932(-;-) |
Alt | rs797045932(-;-) |
Reference | Rs797045932(G;G) |
Significance | Pathogenic |
Disease | Myopathy Central core disease |
Variation | info |
Gene | RYR1 |
CLNDBN | Myopathy Central core disease |
Reversed | 0 |
HGVS | NC_000019.9:g.38951159delG |
CLNSRC | |
CLNACC | RCV000193833.1, RCV000318183.1, |