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rs387906724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906724(C;T)
Make rs387906724(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77870885
GeneMAGT1
is asnp
is mentioned by
dbSNPrs387906724
ebirs387906724
HLIrs387906724
Exacrs387906724
Varsomers387906724
Maprs387906724
PheGenIrs387906724
hapmaprs387906724
1000 genomesrs387906724
hgdprs387906724
ensemblrs387906724
gopubmedrs387906724
geneviewrs387906724
scholarrs387906724
googlers387906724
pharmgkbrs387906724
gwascentralrs387906724
openSNPrs387906724
23andMers387906724
23andMe allrs387906724
SNP Nexus

SNPshotrs387906724
SNPdbers387906724
MSV3drs387906724
GWAS Ctlgrs387906724
Max Magnitude0
ClinVar
Risk rs387906724(T;T)
Alt rs387906724(T;T)
Reference rs387906724(C;C)
Significance Pathogenic
Disease Immunodeficiency
Variation info
Gene MAGT1
CLNDBN Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
Reversed 1
HGVS NC_000023.10:g.77126382G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022874.7,