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rs1057519352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519352(-;-)
Make rs1057519352(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73962975
GeneCOQ6, ENTPD5
is asnp
is mentioned by
dbSNPrs1057519352
dbSNP (old)rs1057519352
ClinGenrs1057519352
ebirs1057519352
HLIrs1057519352
Exacrs1057519352
Gnomadrs1057519352
Varsomers1057519352
LitVarrs1057519352
Maprs1057519352
PheGenIrs1057519352
Biobankrs1057519352
1000 genomesrs1057519352
hgdprs1057519352
ensemblrs1057519352
gopubmedrs1057519352
geneviewrs1057519352
scholarrs1057519352
googlers1057519352
pharmgkbrs1057519352
gwascentralrs1057519352
openSNPrs1057519352
23andMers1057519352
23andMe allrs1057519352
SNPshotrs1057519352
SNPdbers1057519352
MSV3drs1057519352
GWAS Ctlgrs1057519352
Max Magnitude0
ClinVar
Risk rs1057519352(-;-)
Alt rs1057519352(-;-)
Reference Rs1057519352(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.74429678delG
CLNSRC
CLNACC RCV000416408.1,