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rs193922133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922133(A;G)
Make rs193922133(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101358414
GeneBTK
is asnp
is mentioned by
dbSNPrs193922133
dbSNP (classic)rs193922133
ClinGenrs193922133
ebirs193922133
HLIrs193922133
Exacrs193922133
Gnomadrs193922133
Varsomers193922133
LitVarrs193922133
Maprs193922133
PheGenIrs193922133
Biobankrs193922133
1000 genomesrs193922133
hgdprs193922133
ensemblrs193922133
geneviewrs193922133
scholarrs193922133
googlers193922133
pharmgkbrs193922133
gwascentralrs193922133
openSNPrs193922133
23andMers193922133
SNPshotrs193922133
SNPdbers193922133
MSV3drs193922133
GWAS Ctlgrs193922133
Max Magnitude0
ClinVar
Risk rs193922133(G;G)
Alt rs193922133(G;G)
Reference Rs193922133(A;A)
Significance Probable-Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100613402T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029418.1,