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rs1057519348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519348(G;G)
Make rs1057519348(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position83278973
GeneCOQ2
is asnp
is mentioned by
dbSNPrs1057519348
dbSNP (old)rs1057519348
ClinGenrs1057519348
ebirs1057519348
HLIrs1057519348
Exacrs1057519348
Gnomadrs1057519348
Varsomers1057519348
Maprs1057519348
PheGenIrs1057519348
Biobankrs1057519348
1000 genomesrs1057519348
hgdprs1057519348
ensemblrs1057519348
gopubmedrs1057519348
geneviewrs1057519348
scholarrs1057519348
googlers1057519348
pharmgkbrs1057519348
gwascentralrs1057519348
openSNPrs1057519348
23andMers1057519348
23andMe allrs1057519348
SNPshotrs1057519348
SNPdbers1057519348
MSV3drs1057519348
GWAS Ctlgrs1057519348
Max Magnitude0
ClinVar
Risk rs1057519348(G;G)
Alt rs1057519348(G;G)
Reference Rs1057519348(T;T)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ2
CLNDBN Coenzyme Q10 deficiency, primary
Reversed 1
HGVS NC_000004.11:g.84200126A>C
CLNSRC
CLNACC RCV000416391.1,