rs132630259

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs132630259(C;T)

Make rs132630259(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

47628207

Gene

CFP

is a	snp
is	mentioned by
dbSNP	rs132630259
dbSNP (classic)	rs132630259
ClinGen	rs132630259
ebi	rs132630259
HLI	rs132630259
Exac	rs132630259
Gnomad	rs132630259
Varsome	rs132630259
LitVar	rs132630259
Map	rs132630259
PheGenI	rs132630259
Biobank	rs132630259
1000 genomes	rs132630259
hgdp	rs132630259
ensembl	rs132630259
geneview	rs132630259
scholar	rs132630259
google	rs132630259
pharmgkb	rs132630259
gwascentral	rs132630259
openSNP	rs132630259
23andMe	rs132630259
SNPshot	rs132630259
SNPdbe	rs132630259
MSV3d	rs132630259
GWAS Ctlg	rs132630259

Max Magnitude

0

OMIM	300383
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000011932.17,