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rs797045217

From SNPedia

Orientationplus
Make rs797045217(-;-)
Make rs797045217(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226984171
GeneADCK3
is asnp
is mentioned by
dbSNPrs797045217
ebirs797045217
HLIrs797045217
Exacrs797045217
Varsomers797045217
Maprs797045217
PheGenIrs797045217
hapmaprs797045217
1000 genomesrs797045217
hgdprs797045217
ensemblrs797045217
gopubmedrs797045217
geneviewrs797045217
scholarrs797045217
googlers797045217
pharmgkbrs797045217
gwascentralrs797045217
openSNPrs797045217
23andMers797045217
23andMe allrs797045217
SNP Nexus

SNPshotrs797045217
SNPdbers797045217
MSV3drs797045217
GWAS Ctlgrs797045217
Max Magnitude
ClinVar
Risk rs797045217(;)
Alt rs797045217(;)
Reference rs797045217(CA;CA)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227171872_227171873delCA
CLNSRC
CLNACC RCV000193346.1,