rs1048118

Orientation

minus

Stabilized

minus

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

Make rs1048118(C;T)

Make rs1048118(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

47624401

Gene

CFP

is a	snp
is	mentioned by
dbSNP	rs1048118
dbSNP (classic)	rs1048118
ClinGen	rs1048118
ebi	rs1048118
HLI	rs1048118
Exac	rs1048118
Gnomad	rs1048118
Varsome	rs1048118
LitVar	rs1048118
Map	rs1048118
PheGenI	rs1048118
Biobank	rs1048118
1000 genomes	rs1048118
hgdp	rs1048118
ensembl	rs1048118
geneview	rs1048118
scholar	rs1048118
google	rs1048118
pharmgkb	rs1048118
gwascentral	rs1048118
openSNP	rs1048118
23andMe	rs1048118
SNPshot	rs1048118
SNPdbe	rs1048118
MSV3d	rs1048118
GWAS Ctlg	rs1048118

GMAF

0.1802

Max Magnitude

0

[PMID 20122735] Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD)

ClinVar
Risk	rs1048118(T;T)
Alt	rs1048118(T;T)
Reference	Rs1048118(C;C)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	CFP
CLNDBN	not specified
Reversed	1
HGVS	NC_000023.10:g.47483800G>A
CLNSRC
CLNACC	RCV000455084.1,