rs111033623

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Carrier of an X-linked mutation for lymphoproliferative syndrome 1
(T;T)	8.8	Lymphoproliferative syndrome 1 (predicted)

Reference

GRCh38 38.1/141

Chromosome

X

Position

124365786

Gene

SH2D1A

is a	snp
is	mentioned by
dbSNP	rs111033623
dbSNP (classic)	rs111033623
ClinGen	rs111033623
ebi	rs111033623
HLI	rs111033623
Exac	rs111033623
Gnomad	rs111033623
Varsome	rs111033623
LitVar	rs111033623
Map	rs111033623
PheGenI	rs111033623
Biobank	rs111033623
1000 genomes	rs111033623
hgdp	rs111033623
ensembl	rs111033623
geneview	rs111033623
scholar	rs111033623
google	rs111033623
pharmgkb	rs111033623
gwascentral	rs111033623
openSNP	rs111033623
23andMe	rs111033623
SNPshot	rs111033623
SNPdbe	rs111033623
MSV3d	rs111033623
GWAS Ctlg	rs111033623

Max Magnitude

8.8

aka c.163C>T (p.Arg55Ter)

considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar

OMIM	300490
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs111033623(T;T)
Alt	Rs111033623(T;T)
Reference	Rs111033623(C;C)
Significance	Pathogenic
Disease	Lymphoproliferative syndrome 1
Variation	info
Gene	SH2D1A
CLNDBN	Lymphoproliferative syndrome 1, X-linked
Reversed	0
HGVS	NC_000023.10:g.123499636C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011645.2,