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rs267606751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606751(C;T)
Make rs267606751(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position57459583
GeneCOQ9
is asnp
is mentioned by
dbSNPrs267606751
ebirs267606751
HLIrs267606751
Exacrs267606751
Varsomers267606751
Maprs267606751
PheGenIrs267606751
hapmaprs267606751
1000 genomesrs267606751
hgdprs267606751
ensemblrs267606751
gopubmedrs267606751
geneviewrs267606751
scholarrs267606751
googlers267606751
pharmgkbrs267606751
gwascentralrs267606751
openSNPrs267606751
23andMers267606751
23andMe allrs267606751
SNP Nexus

SNPshotrs267606751
SNPdbers267606751
MSV3drs267606751
GWAS Ctlgrs267606751
Max Magnitude0
ClinVar
Risk rs267606751(T;T)
Alt rs267606751(T;T)
Reference rs267606751(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ9
CLNDBN Coenzyme Q10 deficiency, primary, 5
Reversed 0
HGVS NC_000016.9:g.57493495C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000459.3,