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rs121909594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909594(C;G)
Make rs121909594(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position39306753
GeneC9
is asnp
is mentioned by
dbSNPrs121909594
ClinGenrs121909594
ebirs121909594
HLIrs121909594
Exacrs121909594
Varsomers121909594
Maprs121909594
PheGenIrs121909594
hapmaprs121909594
1000 genomesrs121909594
hgdprs121909594
ensemblrs121909594
gopubmedrs121909594
geneviewrs121909594
scholarrs121909594
googlers121909594
pharmgkbrs121909594
gwascentralrs121909594
openSNPrs121909594
23andMers121909594
23andMe allrs121909594
SNP Nexus

SNPshotrs121909594
SNPdbers121909594
MSV3drs121909594
GWAS Ctlgrs121909594
Max Magnitude0
OMIM120940
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909594(G;G)
Alt rs121909594(G;G)
Reference Rs121909594(C;C)
Significance Pathogenic
Disease Complement component 9 deficiency
Variation info
Gene C9
CLNDBN Complement component 9 deficiency
Reversed 1
HGVS NC_000005.9:g.39306855G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018571.24,