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rs193922125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922125(A;T)
Make rs193922125(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356107
GeneBTK
is asnp
is mentioned by
dbSNPrs193922125
ebirs193922125
HLIrs193922125
Exacrs193922125
Varsomers193922125
Maprs193922125
PheGenIrs193922125
hapmaprs193922125
1000 genomesrs193922125
hgdprs193922125
ensemblrs193922125
gopubmedrs193922125
geneviewrs193922125
scholarrs193922125
googlers193922125
pharmgkbrs193922125
gwascentralrs193922125
openSNPrs193922125
23andMers193922125
23andMe allrs193922125
SNP Nexus

SNPshotrs193922125
SNPdbers193922125
MSV3drs193922125
GWAS Ctlgrs193922125
Max Magnitude0
ClinVar
Risk rs193922125(T;T)
Alt rs193922125(T;T)
Reference rs193922125(A;A)
Significance Probable-Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611095T>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029410.1,


[PMID 15661032] Genetic analysis of patients with defects in early B-cell development.