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rs7951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1.4x risk of lupus
(T;T) >1.4x risk of lupus
ReferenceGRCh38 38.1/141
Chromosome19
Position6681980
GeneC3
is asnp
is mentioned by
dbSNPrs7951
dbSNP (classic)rs7951
ClinGenrs7951
ebirs7951
HLIrs7951
Exacrs7951
Gnomadrs7951
Varsomers7951
LitVarrs7951
Maprs7951
PheGenIrs7951
Biobankrs7951
1000 genomesrs7951
hgdprs7951
ensemblrs7951
geneviewrs7951
scholarrs7951
googlers7951
pharmgkbrs7951
gwascentralrs7951
openSNPrs7951
23andMers7951
SNPshotrs7951
SNPdbers7951
MSV3drs7951
GWAS Ctlgrs7951
GMAF0.08678
Max Magnitude0
? (C;C) (C;T) (T;T) 28


In ~500 Japanese SLE patients, the (T) allele of rs7951, a SNP in the C3 gene, is associated with higher risk for systemic lupus erythematosus (SLE). The odds ratio is 1.40 (CI: 1.05-1.86, p=0.016). The mean serum level of the C3 protein was lower in (C;T) and (T;T) genotypes than for individuals with (C;C) genotypes.[PMID 18174230]


ClinVar
Risk Rs7951(T;T)
Alt Rs7951(T;T)
Reference Rs7951(C;C)
Significance Non-pathogenic
Disease Macular degeneration C3 deficiency Atypical hemolytic uremic syndrome
Variation info
Gene C3
CLNDBN Macular degeneration C3 deficiency Atypical hemolytic uremic syndrome
Reversed 1
HGVS NC_000019.9:g.6681991G>A
CLNSRC
CLNACC RCV000288335.1, RCV000343346.1, RCV000397782.1,