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rs128621205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128621205(C;C)
Make rs128621205(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353879
GeneBTK
is asnp
is mentioned by
dbSNPrs128621205
dbSNP (classic)rs128621205
ClinGenrs128621205
ebirs128621205
HLIrs128621205
Exacrs128621205
Gnomadrs128621205
Varsomers128621205
LitVarrs128621205
Maprs128621205
PheGenIrs128621205
Biobankrs128621205
1000 genomesrs128621205
hgdprs128621205
ensemblrs128621205
geneviewrs128621205
scholarrs128621205
googlers128621205
pharmgkbrs128621205
gwascentralrs128621205
openSNPrs128621205
23andMers128621205
SNPshotrs128621205
SNPdbers128621205
MSV3drs128621205
GWAS Ctlgrs128621205
Max Magnitude0
OMIM300300
Desc
Variant0043
Relatedalso
ClinVar
Risk rs128621205(C;C)
Alt rs128621205(C;C)
Reference Rs128621205(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608867A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012137.2,