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rs132630260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630260(C;G)
Make rs132630260(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47627290
GeneCFP
is asnp
is mentioned by
dbSNPrs132630260
ebirs132630260
HLIrs132630260
Exacrs132630260
Varsomers132630260
Maprs132630260
PheGenIrs132630260
hapmaprs132630260
1000 genomesrs132630260
hgdprs132630260
ensemblrs132630260
gopubmedrs132630260
geneviewrs132630260
scholarrs132630260
googlers132630260
pharmgkbrs132630260
gwascentralrs132630260
openSNPrs132630260
23andMers132630260
23andMe allrs132630260
SNP Nexus

SNPshotrs132630260
SNPdbers132630260
MSV3drs132630260
GWAS Ctlgrs132630260
Max Magnitude0
OMIM300383
Desc
Variant0004
Relatedalso
ClinVar
Risk rs132630260(G;G)
Alt rs132630260(G;G)
Reference Rs132630260(C;C)
Significance Pathogenic
Disease Properdin deficiency
Variation info
Gene CFP
CLNDBN Properdin deficiency, X-linked
Reversed 1
HGVS NC_000023.10:g.47486689G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011934.7,