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rs797045931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCCTG;GCCTG) 0 common in clinvar
Make rs797045931(-;-)
Make rs797045931(-;TGGCC)
Make rs797045931(TGGCC;TGGCC)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38457583
GeneRYR1
is asnp
is mentioned by
dbSNPrs797045931
dbSNP (old)rs797045931
ClinGenrs797045931
ebirs797045931
HLIrs797045931
Exacrs797045931
Gnomadrs797045931
Varsomers797045931
Maprs797045931
PheGenIrs797045931
Biobankrs797045931
1000 genomesrs797045931
hgdprs797045931
ensemblrs797045931
gopubmedrs797045931
geneviewrs797045931
scholarrs797045931
googlers797045931
pharmgkbrs797045931
gwascentralrs797045931
openSNPrs797045931
23andMers797045931
23andMe allrs797045931
SNP Nexus

SNPshotrs797045931
SNPdbers797045931
MSV3drs797045931
GWAS Ctlgrs797045931
Max Magnitude0
ClinVar
Risk rs797045931(-;-)
Alt rs797045931(-;-)
Reference Rs797045931(GCCTG;GCCTG)
Significance Pathogenic
Disease Myopathy
Variation info
Gene RYR1
CLNDBN Myopathy
Reversed 0
HGVS NC_000019.9:g.38948223_38948227delTGGCC
CLNSRC
CLNACC RCV000192785.1,