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rs1057519353

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519353(-;T)
Make rs1057519353(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position26723857
GenePDSS1
is asnp
is mentioned by
dbSNPrs1057519353
dbSNP (old)rs1057519353
ClinGenrs1057519353
ebirs1057519353
HLIrs1057519353
Exacrs1057519353
Gnomadrs1057519353
Varsomers1057519353
Maprs1057519353
PheGenIrs1057519353
Biobankrs1057519353
1000 genomesrs1057519353
hgdprs1057519353
ensemblrs1057519353
gopubmedrs1057519353
geneviewrs1057519353
scholarrs1057519353
googlers1057519353
pharmgkbrs1057519353
gwascentralrs1057519353
openSNPrs1057519353
23andMers1057519353
23andMe allrs1057519353
SNPshotrs1057519353
SNPdbers1057519353
MSV3drs1057519353
GWAS Ctlgrs1057519353
Max Magnitude0
ClinVar
Risk rs1057519353(T;T)
Alt rs1057519353(T;T)
Reference Rs1057519353(-;-)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene PDSS1
CLNDBN Coenzyme Q10 deficiency, primary, 2
Reversed 0
HGVS NC_000010.10:g.27012786_27012787insT
CLNSRC
CLNACC RCV000416390.1,