rs1048709

plus

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

Make rs1048709(A;G)

Make rs1048709(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31947158

Gene

CFB

is a	snp
is	mentioned by
dbSNP	rs1048709
dbSNP (classic)	rs1048709
ClinGen	rs1048709
ebi	rs1048709
HLI	rs1048709
Exac	rs1048709
Gnomad	rs1048709
Varsome	rs1048709
LitVar	rs1048709
Map	rs1048709
PheGenI	rs1048709
Biobank	rs1048709
1000 genomes	rs1048709
hgdp	rs1048709
ensembl	rs1048709
geneview	rs1048709
scholar	rs1048709
google	rs1048709
pharmgkb	rs1048709
gwascentral	rs1048709
openSNP	rs1048709
23andMe	rs1048709
SNPshot	rs1048709
SNPdbe	rs1048709
MSV3d	rs1048709
GWAS Ctlg	rs1048709

GMAF

0.174

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 23864767 ] Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients

[PMID 18806293] Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).

[PMID 22714898] Association of C2 and CFB polymorphisms with anterior uveitis.

ClinVar
Risk	rs1048709(G;G)
Alt	rs1048709(G;G)
Reference	Rs1048709(A;A)
Significance	Non-pathogenic
Disease	Atypical hemolytic uremic syndrome Complement component 2 deficiency Macular degeneration
Variation	info
Gene	CFB
CLNDBN	Atypical hemolytic uremic syndrome Complement component 2 deficiency Macular degeneration
Reversed	0
HGVS	NC_000006.11:g.31914935A>G
CLNSRC
CLNACC	RCV000298932.1, RCV000302130.1, RCV000393257.1,