rs104894778

Orientation

plus

Stabilized

plus

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

Make rs104894778(A;A)

Make rs104894778(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

136656377

Gene

CD40LG

is a	snp
is	mentioned by
dbSNP	rs104894778
dbSNP (classic)	rs104894778
ClinGen	rs104894778
ebi	rs104894778
HLI	rs104894778
Exac	rs104894778
Gnomad	rs104894778
Varsome	rs104894778
LitVar	rs104894778
Map	rs104894778
PheGenI	rs104894778
Biobank	rs104894778
1000 genomes	rs104894778
hgdp	rs104894778
ensembl	rs104894778
geneview	rs104894778
scholar	rs104894778
google	rs104894778
pharmgkb	rs104894778
gwascentral	rs104894778
openSNP	rs104894778
23andMe	rs104894778
SNPshot	rs104894778
SNPdbe	rs104894778
MSV3d	rs104894778
GWAS Ctlg	rs104894778

Max Magnitude

0

OMIM	300386
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894778(A;A) rs104894778(T;T)
Alt	rs104894778(A;A) rs104894778(T;T)
Reference	Rs104894778(C;C)
Significance	Pathogenic
Disease	Immunodeficiency with hyper IgM type 1 not specified
Variation	info
Gene	CD40LG
CLNDBN	Immunodeficiency with hyper IgM type 1 not specified
Reversed	0
HGVS	NC_000023.10:g.135738536C>A; NC_000023.10:g.135738536C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011918.2, RCV000481348.1,