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rs132630261

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630261(G;G)
Make rs132630261(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47626062
GeneCFP
is asnp
is mentioned by
dbSNPrs132630261
ebirs132630261
HLIrs132630261
Exacrs132630261
Varsomers132630261
Maprs132630261
PheGenIrs132630261
hapmaprs132630261
1000 genomesrs132630261
hgdprs132630261
ensemblrs132630261
gopubmedrs132630261
geneviewrs132630261
scholarrs132630261
googlers132630261
pharmgkbrs132630261
gwascentralrs132630261
openSNPrs132630261
23andMers132630261
23andMe allrs132630261
SNP Nexus

SNPshotrs132630261
SNPdbers132630261
MSV3drs132630261
GWAS Ctlgrs132630261
Max Magnitude0
OMIM300383
Desc
Variant0005
Relatedalso
ClinVar
Risk rs132630261(C,G;C,G)
Alt rs132630261(C,G;C,G)
Reference rs132630261(T;T)
Significance Pathogenic
Disease Properdin deficiency
Variation info
Gene CFP
CLNDBN Properdin deficiency, type III
Reversed 1
HGVS NC_000023.10:g.47485461A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011935.2,