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rs1057519351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519351(A;A)
Make rs1057519351(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73961867
GeneCOQ6, ENTPD5
is asnp
is mentioned by
dbSNPrs1057519351
dbSNP (classic)rs1057519351
ClinGenrs1057519351
ebirs1057519351
HLIrs1057519351
Exacrs1057519351
Gnomadrs1057519351
Varsomers1057519351
LitVarrs1057519351
Maprs1057519351
PheGenIrs1057519351
Biobankrs1057519351
1000 genomesrs1057519351
hgdprs1057519351
ensemblrs1057519351
geneviewrs1057519351
scholarrs1057519351
googlers1057519351
pharmgkbrs1057519351
gwascentralrs1057519351
openSNPrs1057519351
23andMers1057519351
23andMe allrs1057519351
SNPshotrs1057519351
SNPdbers1057519351
MSV3drs1057519351
GWAS Ctlgrs1057519351
Max Magnitude0
ClinVar
Risk rs1057519351(A;A)
Alt rs1057519351(A;A)
Reference Rs1057519351(G;G)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ6 ENTPD5
CLNDBN Coenzyme Q10 deficiency, primary, 6
Reversed 0
HGVS NC_000014.8:g.74428570G>A
CLNSRC
CLNACC RCV000416396.1,