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rs137852509

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852509(A;A)
Make rs137852509(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71108278
GeneCXorf65, IL2RG
is asnp
is mentioned by
dbSNPrs137852509
dbSNP (classic)rs137852509
ClinGenrs137852509
ebirs137852509
HLIrs137852509
Exacrs137852509
Gnomadrs137852509
Varsomers137852509
LitVarrs137852509
Maprs137852509
PheGenIrs137852509
Biobankrs137852509
1000 genomesrs137852509
hgdprs137852509
ensemblrs137852509
geneviewrs137852509
scholarrs137852509
googlers137852509
pharmgkbrs137852509
gwascentralrs137852509
openSNPrs137852509
23andMers137852509
SNPshotrs137852509
SNPdbers137852509
MSV3drs137852509
GWAS Ctlgrs137852509
Max Magnitude0
OMIM308380
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852509(A;A)
Alt rs137852509(A;A)
Reference Rs137852509(C;C)
Significance Pathogenic
Disease X-linked severe combined immunodeficiency
Variation info
Gene CXorf65 IL2RG
CLNDBN X-linked severe combined immunodeficiency
Reversed 1
HGVS NC_000023.10:g.70328128G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010701.3,