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rs128621209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128621209(A;A)
Make rs128621209(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353264
GeneBTK
is asnp
is mentioned by
dbSNPrs128621209
ebirs128621209
HLIrs128621209
Exacrs128621209
Varsomers128621209
Maprs128621209
PheGenIrs128621209
hapmaprs128621209
1000 genomesrs128621209
hgdprs128621209
ensemblrs128621209
gopubmedrs128621209
geneviewrs128621209
scholarrs128621209
googlers128621209
pharmgkbrs128621209
gwascentralrs128621209
openSNPrs128621209
23andMers128621209
23andMe allrs128621209
SNP Nexus

SNPshotrs128621209
SNPdbers128621209
MSV3drs128621209
GWAS Ctlgrs128621209
Max Magnitude0
OMIM300300
Desc
Variant0047
Relatedalso
ClinVar
Risk rs128621209(A;A)
Alt rs128621209(A;A)
Reference rs128621209(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012141.11,