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

rs121964920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964920(A;A)
Make rs121964920(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position40959520
GeneC7
is asnp
is mentioned by
dbSNPrs121964920
ebirs121964920
HLIrs121964920
Exacrs121964920
Varsomers121964920
Maprs121964920
PheGenIrs121964920
hapmaprs121964920
1000 genomesrs121964920
hgdprs121964920
ensemblrs121964920
gopubmedrs121964920
geneviewrs121964920
scholarrs121964920
googlers121964920
pharmgkbrs121964920
gwascentralrs121964920
openSNPrs121964920
23andMers121964920
23andMe allrs121964920
SNP Nexus

SNPshotrs121964920
SNPdbers121964920
MSV3drs121964920
GWAS Ctlgrs121964920
GMAF0.001377
Max Magnitude0
OMIM217070
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964920(A,T;A,T)
Alt rs121964920(A,T;A,T)
Reference rs121964920(C;C)
Significance Pathogenic
Disease Complement component 7 deficiency C7 and C6 deficiency
Variation info
Gene C7
CLNDBN Complement component 7 deficiency C7 and C6 deficiency, combined subtotal
Reversed 0
HGVS NC_000005.9:g.40959622C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012887.23, RCV000012888.23,