rs111033630

Orientation

plus

Stabilized

plus

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

124365787

Gene

SH2D1A

is a	snp
is	mentioned by
dbSNP	rs111033630
dbSNP (classic)	rs111033630
ClinGen	rs111033630
ebi	rs111033630
HLI	rs111033630
Exac	rs111033630
Gnomad	rs111033630
Varsome	rs111033630
LitVar	rs111033630
Map	rs111033630
PheGenI	rs111033630
Biobank	rs111033630
1000 genomes	rs111033630
hgdp	rs111033630
ensembl	rs111033630
geneview	rs111033630
scholar	rs111033630
google	rs111033630
pharmgkb	rs111033630
gwascentral	rs111033630
openSNP	rs111033630
23andMe	rs111033630
SNPshot	rs111033630
SNPdbe	rs111033630
MSV3d	rs111033630
GWAS Ctlg	rs111033630

Max Magnitude

8.8

aka c.164G>T (p.Arg55Leu)

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

23andMe name: i5003042

OMIM	300490
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs111033630(T;T)
Alt	Rs111033630(T;T)
Reference	Rs111033630(G;G)
Significance	Pathogenic
Disease	Lymphoproliferative syndrome 1
Variation	info
Gene	SH2D1A
CLNDBN	Lymphoproliferative syndrome 1, X-linked
Reversed	0
HGVS	NC_000023.10:g.123499637G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011657.9,