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rs869025602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869025602(-;G)
Make rs869025602(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position131187114
GeneLYRM7
is asnp
is mentioned by
dbSNPrs869025602
dbSNP (classic)rs869025602
ClinGenrs869025602
ebirs869025602
HLIrs869025602
Exacrs869025602
Gnomadrs869025602
Varsomers869025602
LitVarrs869025602
Maprs869025602
PheGenIrs869025602
Biobankrs869025602
1000 genomesrs869025602
hgdprs869025602
ensemblrs869025602
geneviewrs869025602
scholarrs869025602
googlers869025602
pharmgkbrs869025602
gwascentralrs869025602
openSNPrs869025602
23andMers869025602
SNPshotrs869025602
SNPdbers869025602
MSV3drs869025602
GWAS Ctlgrs869025602
Max Magnitude0
ClinVar
Risk rs869025602(G;G)
Alt rs869025602(G;G)
Reference Rs869025602(-;-)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene LYRM7
CLNDBN Mitochondrial complex III deficiency, nuclear type 8
Reversed 0
HGVS NC_000005.9:g.130522807dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000208754.1,