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rs794726857

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726857(A;A)
Make rs794726857(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeMT
Position8969
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs794726857
ebirs794726857
HLIrs794726857
Exacrs794726857
Varsomers794726857
Maprs794726857
PheGenIrs794726857
hapmaprs794726857
1000 genomesrs794726857
hgdprs794726857
ensemblrs794726857
gopubmedrs794726857
geneviewrs794726857
scholarrs794726857
googlers794726857
pharmgkbrs794726857
gwascentralrs794726857
openSNPrs794726857
23andMers794726857
23andMe allrs794726857
SNP Nexus

SNPshotrs794726857
SNPdbers794726857
MSV3drs794726857
GWAS Ctlgrs794726857
Max Magnitude0
ClinVar
Risk rs794726857(A;A)
Alt rs794726857(A;A)
Reference rs794726857(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ATP6
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 3
Reversed 0
HGVS NC_012920.1:m.8969G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000171545.2,