rs12614

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs12614(C;T)

Make rs12614(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31946402

Gene

CFB

is a	snp
is	mentioned by
dbSNP	rs12614
dbSNP (classic)	rs12614
ClinGen	rs12614
ebi	rs12614
HLI	rs12614
Exac	rs12614
Gnomad	rs12614
Varsome	rs12614
LitVar	rs12614
Map	rs12614
PheGenI	rs12614
Biobank	rs12614
1000 genomes	rs12614
hgdp	rs12614
ensembl	rs12614
geneview	rs12614
scholar	rs12614
google	rs12614
pharmgkb	rs12614
gwascentral	rs12614
openSNP	rs12614
23andMe	rs12614
SNPshot	rs12614
SNPdbe	rs12614
MSV3d	rs12614
GWAS Ctlg	rs12614

GMAF

0.1671

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	138470
Desc
Variant	0002
Related	also

[PMID 21541267] 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 23919682] 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 33334325] A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.