rs104894775

Orientation

plus

Stabilized

plus

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

Make rs104894775(A;A)

Make rs104894775(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

136659048

Gene

CD40LG

is a	snp
is	mentioned by
dbSNP	rs104894775
dbSNP (classic)	rs104894775
ClinGen	rs104894775
ebi	rs104894775
HLI	rs104894775
Exac	rs104894775
Gnomad	rs104894775
Varsome	rs104894775
LitVar	rs104894775
Map	rs104894775
PheGenI	rs104894775
Biobank	rs104894775
1000 genomes	rs104894775
hgdp	rs104894775
ensembl	rs104894775
geneview	rs104894775
scholar	rs104894775
google	rs104894775
pharmgkb	rs104894775
gwascentral	rs104894775
openSNP	rs104894775
23andMe	rs104894775
SNPshot	rs104894775
SNPdbe	rs104894775
MSV3d	rs104894775
GWAS Ctlg	rs104894775

Max Magnitude

0

OMIM	300386
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894775(A;A)
Alt	rs104894775(A;A)
Reference	Rs104894775(G;G)
Significance	Pathogenic
Disease	Immunodeficiency with hyper IgM type 1
Variation	info
Gene	CD40LG
CLNDBN	Immunodeficiency with hyper IgM type 1
Reversed	0
HGVS	NC_000023.10:g.135741207G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011913.18,