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rs193922124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922124(A;A)
Make rs193922124(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356163
GeneBTK
is asnp
is mentioned by
dbSNPrs193922124
ebirs193922124
HLIrs193922124
Exacrs193922124
Varsomers193922124
Maprs193922124
PheGenIrs193922124
hapmaprs193922124
1000 genomesrs193922124
hgdprs193922124
ensemblrs193922124
gopubmedrs193922124
geneviewrs193922124
scholarrs193922124
googlers193922124
pharmgkbrs193922124
gwascentralrs193922124
openSNPrs193922124
23andMers193922124
23andMe allrs193922124
SNP Nexus

SNPshotrs193922124
SNPdbers193922124
MSV3drs193922124
GWAS Ctlgrs193922124
Max Magnitude0
ClinVar
Risk rs193922124(A;A)
Alt rs193922124(A;A)
Reference rs193922124(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611151G>T
CLNSRC ClinVar
CLNACC RCV000029409.1,


[PMID 11809909] Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.


[PMID 12405164] XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.