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rs1057518773

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518773(A;A)
Make rs1057518773(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position38505868
GeneRYR1
is asnp
is mentioned by
dbSNPrs1057518773
dbSNP (old)rs1057518773
ClinGenrs1057518773
ebirs1057518773
HLIrs1057518773
Exacrs1057518773
Gnomadrs1057518773
Varsomers1057518773
Maprs1057518773
PheGenIrs1057518773
Biobankrs1057518773
1000 genomesrs1057518773
hgdprs1057518773
ensemblrs1057518773
gopubmedrs1057518773
geneviewrs1057518773
scholarrs1057518773
googlers1057518773
pharmgkbrs1057518773
gwascentralrs1057518773
openSNPrs1057518773
23andMers1057518773
23andMe allrs1057518773
SNPshotrs1057518773
SNPdbers1057518773
MSV3drs1057518773
GWAS Ctlgrs1057518773
Max Magnitude0
ClinVar
Risk rs1057518773(A;A)
Alt rs1057518773(A;A)
Reference Rs1057518773(G;G)
Significance Probable-Pathogenic
Disease Myopathy
Variation info
Gene RYR1
CLNDBN Myopathy
Reversed 0
HGVS NC_000019.9:g.38996508G>A
CLNSRC
CLNACC RCV000415002.1,