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rs132630259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630259(C;T)
Make rs132630259(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47628207
GeneCFP
is asnp
is mentioned by
dbSNPrs132630259
ebirs132630259
HLIrs132630259
Exacrs132630259
Varsomers132630259
Maprs132630259
PheGenIrs132630259
hapmaprs132630259
1000 genomesrs132630259
hgdprs132630259
ensemblrs132630259
gopubmedrs132630259
geneviewrs132630259
scholarrs132630259
googlers132630259
pharmgkbrs132630259
gwascentralrs132630259
openSNPrs132630259
23andMers132630259
23andMe allrs132630259
SNP Nexus

SNPshotrs132630259
SNPdbers132630259
MSV3drs132630259
GWAS Ctlgrs132630259
Max Magnitude0
OMIM300383
Desc
Variant0002
Relatedalso
ClinVar
Risk rs132630259(T;T)
Alt rs132630259(T;T)
Reference rs132630259(C;C)
Significance Pathogenic
Disease Properdin deficiency
Variation info
Gene CFP
CLNDBN Properdin deficiency, type II
Reversed 1
HGVS NC_000023.10:g.47487606G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011932.17,