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rs121909588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909588(C;T)
Make rs121909588(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position120962749
GeneC5
is asnp
is mentioned by
dbSNPrs121909588
dbSNP (classic)rs121909588
ClinGenrs121909588
ebirs121909588
HLIrs121909588
Exacrs121909588
Gnomadrs121909588
Varsomers121909588
LitVarrs121909588
Maprs121909588
PheGenIrs121909588
Biobankrs121909588
1000 genomesrs121909588
hgdprs121909588
ensemblrs121909588
geneviewrs121909588
scholarrs121909588
googlers121909588
pharmgkbrs121909588
gwascentralrs121909588
openSNPrs121909588
23andMers121909588
SNPshotrs121909588
SNPdbers121909588
MSV3drs121909588
GWAS Ctlgrs121909588
Max Magnitude0
OMIM120900
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909588(T;T)
Alt rs121909588(T;T)
Reference Rs121909588(C;C)
Significance Pathogenic
Disease Leiner disease
Variation info
Gene C5
CLNDBN Leiner disease
Reversed 1
HGVS NC_000009.11:g.123725027G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018579.28,