Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045932(-;-)
Make rs797045932(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38460519
GeneRYR1
is asnp
is mentioned by
dbSNPrs797045932
dbSNP (classic)rs797045932
ClinGenrs797045932
ebirs797045932
HLIrs797045932
Exacrs797045932
Gnomadrs797045932
Varsomers797045932
LitVarrs797045932
Maprs797045932
PheGenIrs797045932
Biobankrs797045932
1000 genomesrs797045932
hgdprs797045932
ensemblrs797045932
geneviewrs797045932
scholarrs797045932
googlers797045932
pharmgkbrs797045932
gwascentralrs797045932
openSNPrs797045932
23andMers797045932
SNPshotrs797045932
SNPdbers797045932
MSV3drs797045932
GWAS Ctlgrs797045932
Max Magnitude0
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,