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rs132630258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630258(C;T)
Make rs132630258(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47627564
GeneCFP
is asnp
is mentioned by
dbSNPrs132630258
ebirs132630258
HLIrs132630258
Exacrs132630258
Varsomers132630258
Maprs132630258
PheGenIrs132630258
hapmaprs132630258
1000 genomesrs132630258
hgdprs132630258
ensemblrs132630258
gopubmedrs132630258
geneviewrs132630258
scholarrs132630258
googlers132630258
pharmgkbrs132630258
gwascentralrs132630258
openSNPrs132630258
23andMers132630258
23andMe allrs132630258
SNP Nexus

SNPshotrs132630258
SNPdbers132630258
MSV3drs132630258
GWAS Ctlgrs132630258
Max Magnitude0
OMIM300383
Desc
Variant0001
Relatedalso
ClinVar
Risk rs132630258(T;T)
Alt rs132630258(T;T)
Reference rs132630258(C;C)
Significance Pathogenic
Disease Properdin deficiency
Variation info
Gene CFP
CLNDBN Properdin deficiency, X-linked
Reversed 1
HGVS NC_000023.10:g.47486963G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011931.2,