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rs1048118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1048118(C;T)
Make rs1048118(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47624401
GeneCFP
is asnp
is mentioned by
dbSNPrs1048118
dbSNP (old)rs1048118
ClinGenrs1048118
ebirs1048118
HLIrs1048118
Exacrs1048118
Varsomers1048118
Maprs1048118
PheGenIrs1048118
Biobankrs1048118
1000 genomesrs1048118
hgdprs1048118
ensemblrs1048118
gopubmedrs1048118
geneviewrs1048118
scholarrs1048118
googlers1048118
pharmgkbrs1048118
gwascentralrs1048118
openSNPrs1048118
23andMers1048118
23andMe allrs1048118
SNP Nexus

SNPshotrs1048118
SNPdbers1048118
MSV3drs1048118
GWAS Ctlgrs1048118
GMAF0.1802
Max Magnitude0

[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,