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rs1057519349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519349(A;A)
Make rs1057519349(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position73958229
GeneCOQ6, ENTPD5
is asnp
is mentioned by
dbSNPrs1057519349
dbSNP (old)rs1057519349
ClinGenrs1057519349
ebirs1057519349
HLIrs1057519349
Exacrs1057519349
Gnomadrs1057519349
Varsomers1057519349
Maprs1057519349
PheGenIrs1057519349
Biobankrs1057519349
1000 genomesrs1057519349
hgdprs1057519349
ensemblrs1057519349
gopubmedrs1057519349
geneviewrs1057519349
scholarrs1057519349
googlers1057519349
pharmgkbrs1057519349
gwascentralrs1057519349
openSNPrs1057519349
23andMers1057519349
23andMe allrs1057519349
SNPshotrs1057519349
SNPdbers1057519349
MSV3drs1057519349
GWAS Ctlgrs1057519349
Max Magnitude0
ClinVar
Risk rs1057519349(A;A)
Alt rs1057519349(A;A)
Reference Rs1057519349(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.74424932G>A
CLNSRC
CLNACC RCV000416383.1,