rs104894774

Orientation

plus

Stabilized

plus

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

Make rs104894774(G;G)

Make rs104894774(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

136648355

Gene

CD40LG

is a	snp
is	mentioned by
dbSNP	rs104894774
dbSNP (classic)	rs104894774
ClinGen	rs104894774
ebi	rs104894774
HLI	rs104894774
Exac	rs104894774
Gnomad	rs104894774
Varsome	rs104894774
LitVar	rs104894774
Map	rs104894774
PheGenI	rs104894774
Biobank	rs104894774
1000 genomes	rs104894774
hgdp	rs104894774
ensembl	rs104894774
geneview	rs104894774
scholar	rs104894774
google	rs104894774
pharmgkb	rs104894774
gwascentral	rs104894774
openSNP	rs104894774
23andMe	rs104894774
SNPshot	rs104894774
SNPdbe	rs104894774
MSV3d	rs104894774
GWAS Ctlg	rs104894774

Max Magnitude

0

OMIM	300386
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894774(A;A) rs104894774(G;G)
Alt	rs104894774(A;A) rs104894774(G;G)
Reference	Rs104894774(T;T)
Significance	Pathogenic
Disease	not provided Immunodeficiency with hyper IgM type 1
Variation	info
Gene	CD40LG
CLNDBN	not provided Immunodeficiency with hyper IgM type 1
Reversed	0
HGVS	NC_000023.10:g.135730514T>A; NC_000023.10:g.135730514T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000480912.1, RCV000011912.5,