rs111033625

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

124371389

Gene

SH2D1A

is a	snp
is	mentioned by
dbSNP	rs111033625
dbSNP (classic)	rs111033625
ClinGen	rs111033625
ebi	rs111033625
HLI	rs111033625
Exac	rs111033625
Gnomad	rs111033625
Varsome	rs111033625
LitVar	rs111033625
Map	rs111033625
PheGenI	rs111033625
Biobank	rs111033625
1000 genomes	rs111033625
hgdp	rs111033625
ensembl	rs111033625
geneview	rs111033625
scholar	rs111033625
google	rs111033625
pharmgkb	rs111033625
gwascentral	rs111033625
openSNP	rs111033625
23andMe	rs111033625
SNPshot	rs111033625
SNPdbe	rs111033625
MSV3d	rs111033625
GWAS Ctlg	rs111033625

Max Magnitude

8.8

aka c.385T>A (p.Ter129Arg)

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

OMIM	300490
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs111033625(A;A)
Alt	Rs111033625(A;A)
Reference	Rs111033625(T;T)
Significance	Pathogenic
Disease	Lymphoproliferative syndrome 1
Variation	info
Gene	SH2D1A
CLNDBN	Lymphoproliferative syndrome 1, X-linked
Reversed	0
HGVS	NC_000023.10:g.123505239T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011650.6,