rs111033626

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

124370276

Gene

SH2D1A

is a	snp
is	mentioned by
dbSNP	rs111033626
dbSNP (classic)	rs111033626
ClinGen	rs111033626
ebi	rs111033626
HLI	rs111033626
Exac	rs111033626
Gnomad	rs111033626
Varsome	rs111033626
LitVar	rs111033626
Map	rs111033626
PheGenI	rs111033626
Biobank	rs111033626
1000 genomes	rs111033626
hgdp	rs111033626
ensembl	rs111033626
geneview	rs111033626
scholar	rs111033626
google	rs111033626
pharmgkb	rs111033626
gwascentral	rs111033626
openSNP	rs111033626
23andMe	rs111033626
SNPshot	rs111033626
SNPdbe	rs111033626
MSV3d	rs111033626
GWAS Ctlg	rs111033626

Merged from

Rs28935184

Max Magnitude

8.8

aka c.302C>T (p.Pro101Leu)

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

23andMe name: i5900495

OMIM	300490
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs111033626(T;T)
Alt	Rs111033626(T;T)
Reference	Rs111033626(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.123504126C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011651.5,