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rs193922129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922129(A;G)
Make rs193922129(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101360152
GeneBTK
is asnp
is mentioned by
dbSNPrs193922129
ebirs193922129
HLIrs193922129
Exacrs193922129
Varsomers193922129
Maprs193922129
PheGenIrs193922129
hapmaprs193922129
1000 genomesrs193922129
hgdprs193922129
ensemblrs193922129
gopubmedrs193922129
geneviewrs193922129
scholarrs193922129
googlers193922129
pharmgkbrs193922129
gwascentralrs193922129
openSNPrs193922129
23andMers193922129
23andMe allrs193922129
SNP Nexus

SNPshotrs193922129
SNPdbers193922129
MSV3drs193922129
GWAS Ctlgrs193922129
Max Magnitude0
ClinVar
Risk rs193922129(G;G)
Alt rs193922129(G;G)
Reference rs193922129(A;A)
Significance Probable-Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100615140T>C
CLNSRC ClinVar
CLNACC RCV000029414.1,