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rs118203955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203955(C;T)
Make rs118203955(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position107210483
GenePDSS2
is asnp
is mentioned by
dbSNPrs118203955
ebirs118203955
HLIrs118203955
Exacrs118203955
Varsomers118203955
Maprs118203955
PheGenIrs118203955
hapmaprs118203955
1000 genomesrs118203955
hgdprs118203955
ensemblrs118203955
gopubmedrs118203955
geneviewrs118203955
scholarrs118203955
googlers118203955
pharmgkbrs118203955
gwascentralrs118203955
openSNPrs118203955
23andMers118203955
23andMe allrs118203955
SNP Nexus

SNPshotrs118203955
SNPdbers118203955
MSV3drs118203955
GWAS Ctlgrs118203955
Max Magnitude0
OMIM610564
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203955(G,T;G,T)
Alt rs118203955(G,T;G,T)
Reference rs118203955(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene PDSS2
CLNDBN Coenzyme Q10 deficiency, primary, 3
Reversed 1
HGVS NC_000006.11:g.107531687G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001259.3,