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rs530213004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs530213004(A;A)
Make rs530213004(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position128325810
GeneCOQ4
is asnp
is mentioned by
dbSNPrs530213004
dbSNP (classic)rs530213004
ClinGenrs530213004
ebirs530213004
HLIrs530213004
Exacrs530213004
Gnomadrs530213004
Varsomers530213004
LitVarrs530213004
Maprs530213004
PheGenIrs530213004
Biobankrs530213004
1000 genomesrs530213004
hgdprs530213004
ensemblrs530213004
geneviewrs530213004
scholarrs530213004
googlers530213004
pharmgkbrs530213004
gwascentralrs530213004
openSNPrs530213004
23andMers530213004
SNPshotrs530213004
SNPdbers530213004
MSV3drs530213004
GWAS Ctlgrs530213004
Max Magnitude0
ClinVar
Risk rs530213004(A;A) rs530213004(C;C) rs530213004(T;T)
Alt rs530213004(A;A) rs530213004(C;C) rs530213004(T;T)
Reference Rs530213004(G;G)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ4
CLNDBN Coenzyme Q10 deficiency, primary, 7
Reversed 0
HGVS NC_000009.11:g.131088089G>T
CLNSRC
CLNACC RCV000477704.1,