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rs1057519354

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519354(A;C)
Make rs1057519354(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position26746333
GeneABI1, PDSS1
is asnp
is mentioned by
dbSNPrs1057519354
dbSNP (old)rs1057519354
ClinGenrs1057519354
ebirs1057519354
HLIrs1057519354
Exacrs1057519354
Gnomadrs1057519354
Varsomers1057519354
Maprs1057519354
PheGenIrs1057519354
Biobankrs1057519354
1000 genomesrs1057519354
hgdprs1057519354
ensemblrs1057519354
gopubmedrs1057519354
geneviewrs1057519354
scholarrs1057519354
googlers1057519354
pharmgkbrs1057519354
gwascentralrs1057519354
openSNPrs1057519354
23andMers1057519354
23andMe allrs1057519354
SNPshotrs1057519354
SNPdbers1057519354
MSV3drs1057519354
GWAS Ctlgrs1057519354
Max Magnitude0
ClinVar
Risk rs1057519354(C;C)
Alt rs1057519354(C;C)
Reference Rs1057519354(A;A)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene PDSS1 ABI1
CLNDBN Coenzyme Q10 deficiency, primary, 2
Reversed 0
HGVS NC_000010.10:g.27035262A>C
CLNSRC
CLNACC RCV000416401.1,