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rs1057518885

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518885(A;A)
Make rs1057518885(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position38561362
GeneRYR1
is asnp
is mentioned by
dbSNPrs1057518885
dbSNP (old)rs1057518885
ClinGenrs1057518885
ebirs1057518885
HLIrs1057518885
Exacrs1057518885
Gnomadrs1057518885
Varsomers1057518885
Maprs1057518885
PheGenIrs1057518885
Biobankrs1057518885
1000 genomesrs1057518885
hgdprs1057518885
ensemblrs1057518885
gopubmedrs1057518885
geneviewrs1057518885
scholarrs1057518885
googlers1057518885
pharmgkbrs1057518885
gwascentralrs1057518885
openSNPrs1057518885
23andMers1057518885
23andMe allrs1057518885
SNPshotrs1057518885
SNPdbers1057518885
MSV3drs1057518885
GWAS Ctlgrs1057518885
Max Magnitude0
ClinVar
Risk rs1057518885(A;A)
Alt rs1057518885(A;A)
Reference Rs1057518885(G;G)
Significance Probable-Pathogenic
Disease Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia
Reversed 0
HGVS NC_000019.9:g.39052002G>A
CLNSRC
CLNACC RCV000414914.1,