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rs750710187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs750710187(-;-)
Make rs750710187(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position83264268
GeneCOQ2
is asnp
is mentioned by
dbSNPrs750710187
dbSNP (classic)rs750710187
ClinGenrs750710187
ebirs750710187
HLIrs750710187
Exacrs750710187
Gnomadrs750710187
Varsomers750710187
LitVarrs750710187
Maprs750710187
PheGenIrs750710187
Biobankrs750710187
1000 genomesrs750710187
hgdprs750710187
ensemblrs750710187
geneviewrs750710187
scholarrs750710187
googlers750710187
pharmgkbrs750710187
gwascentralrs750710187
openSNPrs750710187
23andMers750710187
SNPshotrs750710187
SNPdbers750710187
MSV3drs750710187
GWAS Ctlgrs750710187
Max Magnitude0
ClinVar
Risk rs750710187(-;-)
Alt rs750710187(-;-)
Reference Rs750710187(A;A)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ2
CLNDBN Coenzyme Q10 deficiency, primary
Reversed 0
HGVS NC_000004.11:g.84185421delA
CLNSRC
CLNACC RCV000416389.1,