Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909593(G;G)
Make rs121909593(G;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position39341267
GeneC9
is asnp
is mentioned by
dbSNPrs121909593
ebirs121909593
HLIrs121909593
Exacrs121909593
Varsomers121909593
Maprs121909593
PheGenIrs121909593
hapmaprs121909593
1000 genomesrs121909593
hgdprs121909593
ensemblrs121909593
gopubmedrs121909593
geneviewrs121909593
scholarrs121909593
googlers121909593
pharmgkbrs121909593
gwascentralrs121909593
openSNPrs121909593
23andMers121909593
23andMe allrs121909593
SNP Nexus

SNPshotrs121909593
SNPdbers121909593
MSV3drs121909593
GWAS Ctlgrs121909593
Max Magnitude0
OMIM120940
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909593(G;G)
Alt rs121909593(G;G)
Reference rs121909593(T;T)
Significance Pathogenic
Disease Complement component 9 deficiency
Variation info
Gene C9
CLNDBN Complement component 9 deficiency
Reversed 1
HGVS NC_000005.9:g.39341369A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018570.29,