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

rs886042171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCCAGAAATCCAGT;TCCAGAAATCCAGT) 0 common in clinvar
Chromosome19
Position38561145
GeneRYR1
is asnp
is mentioned by
dbSNPrs886042171
dbSNP (classic)rs886042171
ClinGenrs886042171
ebirs886042171
HLIrs886042171
Exacrs886042171
Gnomadrs886042171
Varsomers886042171
LitVarrs886042171
Maprs886042171
PheGenIrs886042171
Biobankrs886042171
1000 genomesrs886042171
hgdprs886042171
ensemblrs886042171
geneviewrs886042171
scholarrs886042171
googlers886042171
pharmgkbrs886042171
gwascentralrs886042171
openSNPrs886042171
23andMers886042171
23andMe allrs886042171
SNPshotrs886042171
SNPdbers886042171
MSV3drs886042171
GWAS Ctlgrs886042171
Max Magnitude0
ClinVar
Risk rs886042171(-;-)
Alt rs886042171(-;-)
Reference Rs886042171(TCCAGAAATCCAGT;TCCAGAAATCCAGT)
Significance Pathogenic
Disease Central core disease Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN Central core disease Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.39051785_39051798delAGAAATCCAGTTCC
CLNSRC
CLNACC RCV000308112.1, RCV000344236.1,