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rs121964919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964919(A;A)
Make rs121964919(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position40979809
GeneC7
is asnp
is mentioned by
dbSNPrs121964919
ebirs121964919
HLIrs121964919
Exacrs121964919
Varsomers121964919
Maprs121964919
PheGenIrs121964919
hapmaprs121964919
1000 genomesrs121964919
hgdprs121964919
ensemblrs121964919
gopubmedrs121964919
geneviewrs121964919
scholarrs121964919
googlers121964919
pharmgkbrs121964919
gwascentralrs121964919
openSNPrs121964919
23andMers121964919
23andMe allrs121964919
SNP Nexus

SNPshotrs121964919
SNPdbers121964919
MSV3drs121964919
GWAS Ctlgrs121964919
Max Magnitude0
OMIM217070
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964919(A;A)
Alt rs121964919(A;A)
Reference rs121964919(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.40979911T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012885.23,