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rs121964921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964921(C;C)
Make rs121964921(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position40955428
GeneC7
is asnp
is mentioned by
dbSNPrs121964921
ebirs121964921
HLIrs121964921
Exacrs121964921
Varsomers121964921
Maprs121964921
PheGenIrs121964921
hapmaprs121964921
1000 genomesrs121964921
hgdprs121964921
ensemblrs121964921
gopubmedrs121964921
geneviewrs121964921
scholarrs121964921
googlers121964921
pharmgkbrs121964921
gwascentralrs121964921
openSNPrs121964921
23andMers121964921
23andMe allrs121964921
SNP Nexus

SNPshotrs121964921
SNPdbers121964921
MSV3drs121964921
GWAS Ctlgrs121964921
Max Magnitude0
OMIM217070
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121964921(A,C;A,C)
Alt rs121964921(A,C;A,C)
Reference rs121964921(G;G)
Significance Pathogenic
Disease Complement component 7 deficiency
Variation info
Gene C7
CLNDBN Complement component 7 deficiency
Reversed 0
HGVS NC_000005.9:g.40955530G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012891.16,