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rs869025604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025604(C;T)
Make rs869025604(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position131187079
GeneLYRM7
is asnp
is mentioned by
dbSNPrs869025604
dbSNP (classic)rs869025604
ClinGenrs869025604
ebirs869025604
HLIrs869025604
Exacrs869025604
Gnomadrs869025604
Varsomers869025604
LitVarrs869025604
Maprs869025604
PheGenIrs869025604
Biobankrs869025604
1000 genomesrs869025604
hgdprs869025604
ensemblrs869025604
geneviewrs869025604
scholarrs869025604
googlers869025604
pharmgkbrs869025604
gwascentralrs869025604
openSNPrs869025604
23andMers869025604
SNPshotrs869025604
SNPdbers869025604
MSV3drs869025604
GWAS Ctlgrs869025604
Max Magnitude0
ClinVar
Risk rs869025604(T;T)
Alt rs869025604(T;T)
Reference Rs869025604(C;C)
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.130522772C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000208772.1,