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rs128621210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128621210(A;A)
Make rs128621210(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353213
GeneBTK
is asnp
is mentioned by
dbSNPrs128621210
ebirs128621210
HLIrs128621210
Exacrs128621210
Varsomers128621210
Maprs128621210
PheGenIrs128621210
hapmaprs128621210
1000 genomesrs128621210
hgdprs128621210
ensemblrs128621210
gopubmedrs128621210
geneviewrs128621210
scholarrs128621210
googlers128621210
pharmgkbrs128621210
gwascentralrs128621210
openSNPrs128621210
23andMers128621210
23andMe allrs128621210
SNP Nexus

SNPshotrs128621210
SNPdbers128621210
MSV3drs128621210
GWAS Ctlgrs128621210
Max Magnitude0
OMIM300300
Desc
Variant0048
Relatedalso
ClinVar
Risk rs128621210(A;A)
Alt rs128621210(A;A)
Reference rs128621210(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608201A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012142.2,