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rs34000044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34000044(A;A)
Make rs34000044(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position39342112
GeneC9
is asnp
is mentioned by
dbSNPrs34000044
ebirs34000044
HLIrs34000044
Exacrs34000044
Varsomers34000044
Maprs34000044
PheGenIrs34000044
hapmaprs34000044
1000 genomesrs34000044
hgdprs34000044
ensemblrs34000044
gopubmedrs34000044
geneviewrs34000044
scholarrs34000044
googlers34000044
pharmgkbrs34000044
gwascentralrs34000044
openSNPrs34000044
23andMers34000044
23andMe allrs34000044
SNP Nexus

SNPshotrs34000044
SNPdbers34000044
MSV3drs34000044
GWAS Ctlgrs34000044
GMAF0.0009183
Max Magnitude0
OMIM120940
Desc
Variant0002
Relatedalso
ClinVar
Risk rs34000044(A,T;A,T)
Alt rs34000044(A,T;A,T)
Reference rs34000044(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.39342214G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018569.28,