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rs387906298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906298(-;-)
Make rs387906298(-;G)
Make rs387906298(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position226986606
GeneADCK3
is asnp
is mentioned by
dbSNPrs387906298
ebirs387906298
HLIrs387906298
Exacrs387906298
Varsomers387906298
Maprs387906298
PheGenIrs387906298
hapmaprs387906298
1000 genomesrs387906298
hgdprs387906298
ensemblrs387906298
gopubmedrs387906298
geneviewrs387906298
scholarrs387906298
googlers387906298
pharmgkbrs387906298
gwascentralrs387906298
openSNPrs387906298
23andMers387906298
23andMe allrs387906298
SNP Nexus

SNPshotrs387906298
SNPdbers387906298
MSV3drs387906298
GWAS Ctlgrs387906298
Max Magnitude0
ClinVar
Risk rs387906298(G;G)
Alt rs387906298(G;G)
Reference rs387906298(;)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227174307dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003825.2,