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rs374270071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs374270071(A;G)
Make rs374270071(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73961761
GeneCOQ6, ENTPD5
is asnp
is mentioned by
dbSNPrs374270071
dbSNP (classic)rs374270071
ClinGenrs374270071
ebirs374270071
HLIrs374270071
Exacrs374270071
Gnomadrs374270071
Varsomers374270071
LitVarrs374270071
Maprs374270071
PheGenIrs374270071
Biobankrs374270071
1000 genomesrs374270071
hgdprs374270071
ensemblrs374270071
geneviewrs374270071
scholarrs374270071
googlers374270071
pharmgkbrs374270071
gwascentralrs374270071
openSNPrs374270071
23andMers374270071
SNPshotrs374270071
SNPdbers374270071
MSV3drs374270071
GWAS Ctlgrs374270071
Max Magnitude0
ClinVar
Risk rs374270071(G;G)
Alt rs374270071(G;G)
Reference Rs374270071(A;A)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ6 ENTPD5
CLNDBN Coenzyme Q10 deficiency, primary, 6
Reversed 0
HGVS NC_000014.8:g.74428464A>G
CLNSRC
CLNACC RCV000416384.1,