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rs864321686

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864321686(A;A)
Make rs864321686(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position19075775
GeneCOQ7
is asnp
is mentioned by
dbSNPrs864321686
ebirs864321686
HLIrs864321686
Exacrs864321686
Varsomers864321686
Maprs864321686
PheGenIrs864321686
hapmaprs864321686
1000 genomesrs864321686
hgdprs864321686
ensemblrs864321686
gopubmedrs864321686
geneviewrs864321686
scholarrs864321686
googlers864321686
pharmgkbrs864321686
gwascentralrs864321686
openSNPrs864321686
23andMers864321686
23andMe allrs864321686
SNP Nexus

SNPshotrs864321686
SNPdbers864321686
MSV3drs864321686
GWAS Ctlgrs864321686
Max Magnitude0
ClinVar
Risk rs864321686(A;A)
Alt rs864321686(A;A)
Reference rs864321686(T;T)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ7
CLNDBN Coenzyme Q10 deficiency, primary, 8
Reversed 0
HGVS NC_000016.9:g.19087097T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203513.1,