rs28935480

Orientation

minus

Stabilized

minus

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

Make rs28935480(G;T)

Make rs28935480(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

47626820

Gene

CFP

is a	snp
is	mentioned by
dbSNP	rs28935480
dbSNP (classic)	rs28935480
ClinGen	rs28935480
ebi	rs28935480
HLI	rs28935480
Exac	rs28935480
Gnomad	rs28935480
Varsome	rs28935480
LitVar	rs28935480
Map	rs28935480
PheGenI	rs28935480
Biobank	rs28935480
1000 genomes	rs28935480
hgdp	rs28935480
ensembl	rs28935480
geneview	rs28935480
scholar	rs28935480
google	rs28935480
pharmgkb	rs28935480
gwascentral	rs28935480
openSNP	rs28935480
23andMe	rs28935480
SNPshot	rs28935480
SNPdbe	rs28935480
MSV3d	rs28935480
GWAS Ctlg	rs28935480

Max Magnitude

0

OMIM	300383
Desc	PROPERDIN DEFICIENCY, TYPE I
Variant	0003
Related	also

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 UniProtKB (protein)
CLNACC	RCV000011933.17,