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rs869312995

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312995(G;G)
Make rs869312995(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position193647076
GeneLOC102724808, OPA1
is asnp
is mentioned by
dbSNPrs869312995
ebirs869312995
HLIrs869312995
Exacrs869312995
Varsomers869312995
Maprs869312995
PheGenIrs869312995
hapmaprs869312995
1000 genomesrs869312995
hgdprs869312995
ensemblrs869312995
gopubmedrs869312995
geneviewrs869312995
scholarrs869312995
googlers869312995
pharmgkbrs869312995
gwascentralrs869312995
openSNPrs869312995
23andMers869312995
23andMe allrs869312995
SNP Nexus

SNPshotrs869312995
SNPdbers869312995
MSV3drs869312995
GWAS Ctlgrs869312995
Max Magnitude0
ClinVar
Risk rs869312995(G;G)
Alt rs869312995(G;G)
Reference rs869312995(T;T)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Variation info
Gene OPA1 LOC101929213
CLNDBN Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Reversed 0
HGVS NC_000003.11:g.193364865T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210746.2,