rs111033624

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

124346737

Gene

SH2D1A

is a	snp
is	mentioned by
dbSNP	rs111033624
dbSNP (classic)	rs111033624
ClinGen	rs111033624
ebi	rs111033624
HLI	rs111033624
Exac	rs111033624
Gnomad	rs111033624
Varsome	rs111033624
LitVar	rs111033624
Map	rs111033624
PheGenI	rs111033624
Biobank	rs111033624
1000 genomes	rs111033624
hgdp	rs111033624
ensembl	rs111033624
geneview	rs111033624
scholar	rs111033624
google	rs111033624
pharmgkb	rs111033624
gwascentral	rs111033624
openSNP	rs111033624
23andMe	rs111033624
SNPshot	rs111033624
SNPdbe	rs111033624
MSV3d	rs111033624
GWAS Ctlg	rs111033624

Max Magnitude

8.8

aka c.95G>C (p.Arg32Thr)

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

23andMe name: i5003046

OMIM	300490
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs111033624(C;C)
Alt	Rs111033624(C;C)
Reference	Rs111033624(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.123480587G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011648.6,