rs104894769

Orientation

plus

Stabilized

plus

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

Make rs104894769(C;C)

Make rs104894769(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

136659093

Gene

CD40LG

is a	snp
is	mentioned by
dbSNP	rs104894769
dbSNP (classic)	rs104894769
ClinGen	rs104894769
ebi	rs104894769
HLI	rs104894769
Exac	rs104894769
Gnomad	rs104894769
Varsome	rs104894769
LitVar	rs104894769
Map	rs104894769
PheGenI	rs104894769
Biobank	rs104894769
1000 genomes	rs104894769
hgdp	rs104894769
ensembl	rs104894769
geneview	rs104894769
scholar	rs104894769
google	rs104894769
pharmgkb	rs104894769
gwascentral	rs104894769
openSNP	rs104894769
23andMe	rs104894769
SNPshot	rs104894769
SNPdbe	rs104894769
MSV3d	rs104894769
GWAS Ctlg	rs104894769

Max Magnitude

0

OMIM	300386
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894769(A;A) rs104894769(C;C)
Alt	rs104894769(A;A) rs104894769(C;C)
Reference	Rs104894769(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.135741252T>A; NC_000023.10:g.135741252T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000480761.1, RCV000011910.17,