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rs797045933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045933(-;TCCTAT)
Make rs797045933(TCCTAT;TCCTAT)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38467671
GeneRYR1
is asnp
is mentioned by
dbSNPrs797045933
ClinGenrs797045933
ebirs797045933
HLIrs797045933
Exacrs797045933
Varsomers797045933
Maprs797045933
PheGenIrs797045933
hapmaprs797045933
1000 genomesrs797045933
hgdprs797045933
ensemblrs797045933
gopubmedrs797045933
geneviewrs797045933
scholarrs797045933
googlers797045933
pharmgkbrs797045933
gwascentralrs797045933
openSNPrs797045933
23andMers797045933
23andMe allrs797045933
SNP Nexus

SNPshotrs797045933
SNPdbers797045933
MSV3drs797045933
GWAS Ctlgrs797045933
Max Magnitude0
ClinVar
Risk rs797045933(TCCTAT;TCCTAT)
Alt rs797045933(TCCTAT;TCCTAT)
Reference Rs797045933(-;-)
Significance Probable-Pathogenic
Disease Myopathy
Variation info
Gene RYR1
CLNDBN Myopathy
Reversed 0
HGVS NC_000019.9:g.38958306_38958311dupTCCTAT
CLNSRC
CLNACC RCV000193890.1,