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rs121964922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964922(A;A)
Make rs121964922(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position40958230
GeneC7
is asnp
is mentioned by
dbSNPrs121964922
ebirs121964922
HLIrs121964922
Exacrs121964922
Varsomers121964922
Maprs121964922
PheGenIrs121964922
hapmaprs121964922
1000 genomesrs121964922
hgdprs121964922
ensemblrs121964922
gopubmedrs121964922
geneviewrs121964922
scholarrs121964922
googlers121964922
pharmgkbrs121964922
gwascentralrs121964922
openSNPrs121964922
23andMers121964922
23andMe allrs121964922
SNP Nexus

SNPshotrs121964922
SNPdbers121964922
MSV3drs121964922
GWAS Ctlgrs121964922
Max Magnitude0
OMIM217070
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121964922(A;A)
Alt rs121964922(A;A)
Reference rs121964922(T;T)
Significance Pathogenic
Disease Complement component 7 deficiency
Variation info
Gene C7
CLNDBN Complement component 7 deficiency
Reversed 0
HGVS NC_000005.9:g.40958332T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012894.23,