rs111033627

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

124370177

Gene

SH2D1A

is a	snp
is	mentioned by
dbSNP	rs111033627
dbSNP (classic)	rs111033627
ClinGen	rs111033627
ebi	rs111033627
HLI	rs111033627
Exac	rs111033627
Gnomad	rs111033627
Varsome	rs111033627
LitVar	rs111033627
Map	rs111033627
PheGenI	rs111033627
Biobank	rs111033627
1000 genomes	rs111033627
hgdp	rs111033627
ensembl	rs111033627
geneview	rs111033627
scholar	rs111033627
google	rs111033627
pharmgkb	rs111033627
gwascentral	rs111033627
openSNP	rs111033627
23andMe	rs111033627
SNPshot	rs111033627
SNPdbe	rs111033627
MSV3d	rs111033627
GWAS Ctlg	rs111033627

Max Magnitude

8.8

aka c.203C>T (p.Thr68Ile)

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

23andMe name: i5003044

OMIM	300490
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs111033627(T;T)
Alt	Rs111033627(T;T)
Reference	Rs111033627(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.123504027C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011652.9,