Have questions? Visit https://www.reddit.com/r/SNPedia

rs28935480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28935480(G;T)
Make rs28935480(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position47626820
GeneCFP
is asnp
is mentioned by
dbSNPrs28935480
ebirs28935480
HLIrs28935480
Exacrs28935480
Varsomers28935480
Maprs28935480
PheGenIrs28935480
hapmaprs28935480
1000 genomesrs28935480
hgdprs28935480
ensemblrs28935480
gopubmedrs28935480
geneviewrs28935480
scholarrs28935480
googlers28935480
pharmgkbrs28935480
gwascentralrs28935480
openSNPrs28935480
23andMers28935480
23andMe allrs28935480
SNP Nexus

SNPshotrs28935480
SNPdbers28935480
MSV3drs28935480
GWAS Ctlgrs28935480
Max Magnitude0
OMIM300383
DescPROPERDIN DEFICIENCY, TYPE I
Variant0003
Relatedalso


ClinVar
Risk rs28935480(T;T)
Alt rs28935480(T;T)
Reference rs28935480(G;G)
Significance Pathogenic
Disease Properdin deficiency
Variation info
Gene CFP
CLNDBN Properdin deficiency, X-linked
Reversed 1
HGVS NC_000023.10:g.47486219C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011933.17,