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rs869025603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869025603(-;TTA)
Make rs869025603(TTA;TTA)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position131187060
GeneLYRM7
is asnp
is mentioned by
dbSNPrs869025603
dbSNP (classic)rs869025603
ClinGenrs869025603
ebirs869025603
HLIrs869025603
Exacrs869025603
Gnomadrs869025603
Varsomers869025603
LitVarrs869025603
Maprs869025603
PheGenIrs869025603
Biobankrs869025603
1000 genomesrs869025603
hgdprs869025603
ensemblrs869025603
geneviewrs869025603
scholarrs869025603
googlers869025603
pharmgkbrs869025603
gwascentralrs869025603
openSNPrs869025603
23andMers869025603
SNPshotrs869025603
SNPdbers869025603
MSV3drs869025603
GWAS Ctlgrs869025603
Max Magnitude0
ClinVar
Risk rs869025603(ATT;ATT)
Alt rs869025603(ATT;ATT)
Reference Rs869025603(-;-)
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.130522751_130522753dupTTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000208761.1,