rs28931586

Orientation

plus

Stabilized

plus

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

Make rs28931586(C;C)

Make rs28931586(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

46122349

Gene

CD40

is a	snp
is	mentioned by
dbSNP	rs28931586
dbSNP (classic)	rs28931586
ClinGen	rs28931586
ebi	rs28931586
HLI	rs28931586
Exac	rs28931586
Gnomad	rs28931586
Varsome	rs28931586
LitVar	rs28931586
Map	rs28931586
PheGenI	rs28931586
Biobank	rs28931586
1000 genomes	rs28931586
hgdp	rs28931586
ensembl	rs28931586
geneview	rs28931586
scholar	rs28931586
google	rs28931586
pharmgkb	rs28931586
gwascentral	rs28931586
openSNP	rs28931586
23andMe	rs28931586
SNPshot	rs28931586
SNPdbe	rs28931586
MSV3d	rs28931586
GWAS Ctlg	rs28931586

Max Magnitude

0

OMIM	109535
Desc	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
Variant	0002
Related	also

ClinVar
Risk	rs28931586(C;C)
Alt	rs28931586(C;C)
Reference	Rs28931586(T;T)
Significance	Pathogenic
Disease	Immunodeficiency with hyper IgM type 3
Variation	info
Gene	CD40
CLNDBN	Immunodeficiency with hyper IgM type 3
Reversed	0
HGVS	NC_000020.10:g.44750988T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019325.27,