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rs193922131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922131(A;A)
Make rs193922131(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101359348
GeneBTK
is asnp
is mentioned by
dbSNPrs193922131
ebirs193922131
HLIrs193922131
Exacrs193922131
Varsomers193922131
Maprs193922131
PheGenIrs193922131
hapmaprs193922131
1000 genomesrs193922131
hgdprs193922131
ensemblrs193922131
gopubmedrs193922131
geneviewrs193922131
scholarrs193922131
googlers193922131
pharmgkbrs193922131
gwascentralrs193922131
openSNPrs193922131
23andMers193922131
23andMe allrs193922131
SNP Nexus

SNPshotrs193922131
SNPdbers193922131
MSV3drs193922131
GWAS Ctlgrs193922131
Max Magnitude0
ClinVar
Risk rs193922131(A;A)
Alt rs193922131(A;A)
Reference rs193922131(G;G)
Significance Probable-Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100614336C>T
CLNSRC ClinVar
CLNACC RCV000029416.1,