rs132630258

Orientation

minus

Stabilized

minus

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

Make rs132630258(C;T)

Make rs132630258(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

47627564

Gene

CFP

is a	snp
is	mentioned by
dbSNP	rs132630258
dbSNP (classic)	rs132630258
ClinGen	rs132630258
ebi	rs132630258
HLI	rs132630258
Exac	rs132630258
Gnomad	rs132630258
Varsome	rs132630258
LitVar	rs132630258
Map	rs132630258
PheGenI	rs132630258
Biobank	rs132630258
1000 genomes	rs132630258
hgdp	rs132630258
ensembl	rs132630258
geneview	rs132630258
scholar	rs132630258
google	rs132630258
pharmgkb	rs132630258
gwascentral	rs132630258
openSNP	rs132630258
23andMe	rs132630258
SNPshot	rs132630258
SNPdbe	rs132630258
MSV3d	rs132630258
GWAS Ctlg	rs132630258

Max Magnitude

0

OMIM	300383
Desc
Variant	0001
Related	also

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,