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rs747150601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747150601(A;A)
Make rs747150601(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position226983607
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs747150601
dbSNP (classic)rs747150601
ClinGenrs747150601
ebirs747150601
HLIrs747150601
Exacrs747150601
Gnomadrs747150601
Varsomers747150601
LitVarrs747150601
Maprs747150601
PheGenIrs747150601
Biobankrs747150601
1000 genomesrs747150601
hgdprs747150601
ensemblrs747150601
geneviewrs747150601
scholarrs747150601
googlers747150601
pharmgkbrs747150601
gwascentralrs747150601
openSNPrs747150601
23andMers747150601
23andMe allrs747150601
SNPshotrs747150601
SNPdbers747150601
MSV3drs747150601
GWAS Ctlgrs747150601
Max Magnitude0
ClinVar
Risk rs747150601(A;A)
Alt rs747150601(A;A)
Reference Rs747150601(T;T)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ8A ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227171308T>A
CLNSRC
CLNACC RCV000416409.1,