Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519344

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519344(-;GTA)
Make rs1057519344(GTA;GTA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position226983553
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs1057519344
dbSNP (old)rs1057519344
ClinGenrs1057519344
ebirs1057519344
HLIrs1057519344
Exacrs1057519344
Gnomadrs1057519344
Varsomers1057519344
Maprs1057519344
PheGenIrs1057519344
Biobankrs1057519344
1000 genomesrs1057519344
hgdprs1057519344
ensemblrs1057519344
gopubmedrs1057519344
geneviewrs1057519344
scholarrs1057519344
googlers1057519344
pharmgkbrs1057519344
gwascentralrs1057519344
openSNPrs1057519344
23andMers1057519344
23andMe allrs1057519344
SNPshotrs1057519344
SNPdbers1057519344
MSV3drs1057519344
GWAS Ctlgrs1057519344
Max Magnitude0
ClinVar
Risk rs1057519344(AGT;AGT)
Alt rs1057519344(AGT;AGT)
Reference Rs1057519344(-;-)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ8A ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227171252_227171254dupGTA
CLNSRC
CLNACC RCV000416399.1,