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rs387906299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACC;ACC) 0 common in clinvar
(CAC;CAC) 0 common in clinvar
Make rs387906299(-;-)
Make rs387906299(-;ACC)
ReferenceGRCh38 38.1/141
Chromosome1
Position226986543
GeneADCK3
is asnp
is mentioned by
dbSNPrs387906299
ebirs387906299
HLIrs387906299
Exacrs387906299
Varsomers387906299
Maprs387906299
PheGenIrs387906299
hapmaprs387906299
1000 genomesrs387906299
hgdprs387906299
ensemblrs387906299
gopubmedrs387906299
geneviewrs387906299
scholarrs387906299
googlers387906299
pharmgkbrs387906299
gwascentralrs387906299
openSNPrs387906299
23andMers387906299
23andMe allrs387906299
SNP Nexus

SNPshotrs387906299
SNPdbers387906299
MSV3drs387906299
GWAS Ctlgrs387906299
Max Magnitude0
ClinVar
Risk rs387906299(;)
Alt rs387906299(;)
Reference rs387906299(CAC;CAC)
Significance Pathogenic
Disease Coenzyme Q10 deficiency not provided
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4 not provided
Reversed 0
HGVS NC_000001.10:g.227174244_227174246delACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003829.2, RCV000199676.2,