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rs119463988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119463988(G;G)
Make rs119463988(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position26735477
GenePDSS1
is asnp
is mentioned by
dbSNPrs119463988
ebirs119463988
HLIrs119463988
Exacrs119463988
Varsomers119463988
Maprs119463988
PheGenIrs119463988
hapmaprs119463988
1000 genomesrs119463988
hgdprs119463988
ensemblrs119463988
gopubmedrs119463988
geneviewrs119463988
scholarrs119463988
googlers119463988
pharmgkbrs119463988
gwascentralrs119463988
openSNPrs119463988
23andMers119463988
23andMe allrs119463988
SNP Nexus

SNPshotrs119463988
SNPdbers119463988
MSV3drs119463988
GWAS Ctlgrs119463988
Max Magnitude0
OMIM607429
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119463988(G;G)
Alt rs119463988(G;G)
Reference rs119463988(T;T)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene PDSS1
CLNDBN Coenzyme Q10 deficiency, primary, 2
Reversed 0
HGVS NC_000010.10:g.27024406T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003393.3,