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rs111033630

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
ChromosomeX
Position124365787
GeneSH2D1A
is asnp
is mentioned by
dbSNPrs111033630
dbSNP (old)rs111033630
ClinGenrs111033630
ebirs111033630
HLIrs111033630
Exacrs111033630
Gnomadrs111033630
Varsomers111033630
Maprs111033630
PheGenIrs111033630
Biobankrs111033630
1000 genomesrs111033630
hgdprs111033630
ensemblrs111033630
gopubmedrs111033630
geneviewrs111033630
scholarrs111033630
googlers111033630
pharmgkbrs111033630
gwascentralrs111033630
openSNPrs111033630
23andMers111033630
23andMe allrs111033630
SNPshotrs111033630
SNPdbers111033630
MSV3drs111033630
GWAS Ctlgrs111033630
Max Magnitude8.8

aka c.164G>T (p.Arg55Leu)

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

23andMe name: i5003042

OMIM300490
Desc
Variant0013
Relatedalso
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,