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rs771578775

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs771578775(C;T)
Make rs771578775(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226982996
GeneADCK3
is asnp
is mentioned by
dbSNPrs771578775
ebirs771578775
HLIrs771578775
Exacrs771578775
Varsomers771578775
Maprs771578775
PheGenIrs771578775
hapmaprs771578775
1000 genomesrs771578775
hgdprs771578775
ensemblrs771578775
gopubmedrs771578775
geneviewrs771578775
scholarrs771578775
googlers771578775
pharmgkbrs771578775
gwascentralrs771578775
openSNPrs771578775
23andMers771578775
23andMe allrs771578775
SNP Nexus

SNPshotrs771578775
SNPdbers771578775
MSV3drs771578775
GWAS Ctlgrs771578775
Max Magnitude0
ClinVar
Risk rs771578775(T;T)
Alt rs771578775(T;T)
Reference rs771578775(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227170697C>T
CLNSRC
CLNACC RCV000201953.1,