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rs121909592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909592(C;T)
Make rs121909592(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position39341276
GeneC9
is asnp
is mentioned by
dbSNPrs121909592
ebirs121909592
HLIrs121909592
Exacrs121909592
Varsomers121909592
Maprs121909592
PheGenIrs121909592
hapmaprs121909592
1000 genomesrs121909592
hgdprs121909592
ensemblrs121909592
gopubmedrs121909592
geneviewrs121909592
scholarrs121909592
googlers121909592
pharmgkbrs121909592
gwascentralrs121909592
openSNPrs121909592
23andMers121909592
23andMe allrs121909592
SNP Nexus

SNPshotrs121909592
SNPdbers121909592
MSV3drs121909592
GWAS Ctlgrs121909592
GMAF0.003673
Max Magnitude0
OMIM120940
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909592(T;T)
Alt rs121909592(T;T)
Reference rs121909592(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.39341378G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018568.27,