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rs118203956

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203956(C;T)
Make rs118203956(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position107154674
GenePDSS2
is asnp
is mentioned by
dbSNPrs118203956
ebirs118203956
HLIrs118203956
Exacrs118203956
Varsomers118203956
Maprs118203956
PheGenIrs118203956
hapmaprs118203956
1000 genomesrs118203956
hgdprs118203956
ensemblrs118203956
gopubmedrs118203956
geneviewrs118203956
scholarrs118203956
googlers118203956
pharmgkbrs118203956
gwascentralrs118203956
openSNPrs118203956
23andMers118203956
23andMe allrs118203956
SNP Nexus

SNPshotrs118203956
SNPdbers118203956
MSV3drs118203956
GWAS Ctlgrs118203956
Max Magnitude0
OMIM610564
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203956(T;T)
Alt rs118203956(T;T)
Reference rs118203956(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.107475878G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001260.3,