rs587777612

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 38.1/142

Chromosome

X

Position

124346784

Gene

SH2D1A

is a	snp
is	mentioned by
dbSNP	rs587777612
dbSNP (classic)	rs587777612
ClinGen	rs587777612
ebi	rs587777612
HLI	rs587777612
Exac	rs587777612
Gnomad	rs587777612
Varsome	rs587777612
LitVar	rs587777612
Map	rs587777612
PheGenI	rs587777612
Biobank	rs587777612
1000 genomes	rs587777612
hgdp	rs587777612
ensembl	rs587777612
geneview	rs587777612
scholar	rs587777612
google	rs587777612
pharmgkb	rs587777612
gwascentral	rs587777612
openSNP	rs587777612
23andMe	rs587777612
SNPshot	rs587777612
SNPdbe	rs587777612
MSV3d	rs587777612
GWAS Ctlg	rs587777612

Max Magnitude

8.8

aka c.137+5G>C

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

ClinVar
Risk	Rs587777612(C;C)
Alt	Rs587777612(C;C)
Reference	Rs587777612(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.123480634G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000133459.3,