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rs193922128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs193922128(-;-)
Make rs193922128(-;ACAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101362606
GeneBTK
is asnp
is mentioned by
dbSNPrs193922128
ebirs193922128
HLIrs193922128
Exacrs193922128
Varsomers193922128
Maprs193922128
PheGenIrs193922128
hapmaprs193922128
1000 genomesrs193922128
hgdprs193922128
ensemblrs193922128
gopubmedrs193922128
geneviewrs193922128
scholarrs193922128
googlers193922128
pharmgkbrs193922128
gwascentralrs193922128
openSNPrs193922128
23andMers193922128
23andMe allrs193922128
SNP Nexus

SNPshotrs193922128
SNPdbers193922128
MSV3drs193922128
GWAS Ctlgrs193922128
Max Magnitude0
ClinVar
Risk rs193922128(;)
Alt rs193922128(;)
Reference rs193922128(ACAG;ACAG)
Significance Probable-Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100617594_100617597delCTGT
CLNSRC ClinVar LabCorp
CLNACC RCV000029413.1,


[PMID 11742281] Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.