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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
dbSNP (classic)rs12614
ClinGenrs12614
ebirs12614
HLIrs12614
Exacrs12614
Gnomadrs12614
Varsomers12614
LitVarrs12614
Maprs12614
PheGenIrs12614
Biobankrs12614
1000 genomesrs12614
hgdprs12614
ensemblrs12614
geneviewrs12614
scholarrs12614
googlers12614
pharmgkbrs12614
gwascentralrs12614
openSNPrs12614
23andMers12614
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;G) rs12614(T;T)
Alt rs12614(G;G) rs12614(T;T)
Reference Rs12614(C;C)
Significance Non-pathogenic
Disease Factor B fast/slow polymorphism Atypical hemolytic uremic syndrome Macular degeneration Complement component 2 deficiency
Variation info
Gene CFB
CLNDBN Factor B fast/slow polymorphism Atypical hemolytic uremic syndrome Macular degeneration Complement component 2 deficiency
Reversed 0
HGVS NC_000006.11:g.31914179C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017455.2, RCV000293644.1, RCV000324324.2, RCV000324934.2,



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


[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


[PMID 33334325OA-icon.png] A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.