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rs193922126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AATTTCCA;AATTTCCA) 0 common in clinvar
Make rs193922126(-;-)
Make rs193922126(-;AATTTCCA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353940
GeneBTK
is asnp
is mentioned by
dbSNPrs193922126
ebirs193922126
HLIrs193922126
Exacrs193922126
Varsomers193922126
Maprs193922126
PheGenIrs193922126
hapmaprs193922126
1000 genomesrs193922126
hgdprs193922126
ensemblrs193922126
gopubmedrs193922126
geneviewrs193922126
scholarrs193922126
googlers193922126
pharmgkbrs193922126
gwascentralrs193922126
openSNPrs193922126
23andMers193922126
23andMe allrs193922126
SNP Nexus

SNPshotrs193922126
SNPdbers193922126
MSV3drs193922126
GWAS Ctlgrs193922126
Max Magnitude0
ClinVar
Risk rs193922126(;)
Alt rs193922126(;)
Reference rs193922126(AATTTCCA;AATTTCCA)
Significance Probable-Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608928_100608935delTGGAAATT
CLNSRC ClinVar LabCorp
CLNACC RCV000029411.1,