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rs1057519350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519350(A;A)
Make rs1057519350(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73959204
GeneCOQ6, ENTPD5
is asnp
is mentioned by
dbSNPrs1057519350
dbSNP (old)rs1057519350
ClinGenrs1057519350
ebirs1057519350
HLIrs1057519350
Exacrs1057519350
Gnomadrs1057519350
Varsomers1057519350
Maprs1057519350
PheGenIrs1057519350
Biobankrs1057519350
1000 genomesrs1057519350
hgdprs1057519350
ensemblrs1057519350
gopubmedrs1057519350
geneviewrs1057519350
scholarrs1057519350
googlers1057519350
pharmgkbrs1057519350
gwascentralrs1057519350
openSNPrs1057519350
23andMers1057519350
23andMe allrs1057519350
SNPshotrs1057519350
SNPdbers1057519350
MSV3drs1057519350
GWAS Ctlgrs1057519350
Max Magnitude0
ClinVar
Risk rs1057519350(A;A)
Alt rs1057519350(A;A)
Reference Rs1057519350(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.74425907G>A
CLNSRC
CLNACC RCV000416398.1,