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rs12614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs12614(C;T)
Make rs12614(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31946402
GeneCFB
is asnp
is mentioned by
dbSNPrs12614
ebirs12614
HLIrs12614
Exacrs12614
Varsomers12614
Maprs12614
PheGenIrs12614
hapmaprs12614
1000 genomesrs12614
hgdprs12614
ensemblrs12614
gopubmedrs12614
geneviewrs12614
scholarrs12614
googlers12614
pharmgkbrs12614
gwascentralrs12614
openSNPrs12614
23andMers12614
23andMe allrs12614
SNP Nexus

SNPshotrs12614
SNPdbers12614
MSV3drs12614
GWAS Ctlgrs12614
GMAF0.1671
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM138470
Desc
Variant0002
Relatedalso
[PMID 21541267OA-icon.png] Complement factor B polymorphism 32W protects against age-related macular degeneration


ClinVar
Risk rs12614(G,T;G,T)
Alt rs12614(G,T;G,T)
Reference rs12614(C;C)
Significance Non-pathogenic
Disease Factor B fast/slow polymorphism
Variation info
Gene CFB
CLNDBN Factor B fast/slow polymorphism
Reversed 0
HGVS NC_000006.11:g.31914179C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017455.2,



[PMID 19696172] The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.


GET Evidence
CFB-R32W
aa_change Arg32Trp
aa_change_short R32W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.15625
summary



[PMID 23919682OA-icon.png] Complement alternative pathway genetic variation and Dengue infection in the Thai population


[PMID 25802187] Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B