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rs128620186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128620186(C;C)
Make rs128620186(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101375283
GeneBTK
is asnp
is mentioned by
dbSNPrs128620186
ebirs128620186
HLIrs128620186
Exacrs128620186
Varsomers128620186
Maprs128620186
PheGenIrs128620186
hapmaprs128620186
1000 genomesrs128620186
hgdprs128620186
ensemblrs128620186
gopubmedrs128620186
geneviewrs128620186
scholarrs128620186
googlers128620186
pharmgkbrs128620186
gwascentralrs128620186
openSNPrs128620186
23andMers128620186
23andMe allrs128620186
SNP Nexus

SNPshotrs128620186
SNPdbers128620186
MSV3drs128620186
GWAS Ctlgrs128620186
Max Magnitude0
OMIM300300
Desc
Variant0006
Relatedalso
ClinVar
Risk rs128620186(C;C)
Alt rs128620186(C;C)
Reference rs128620186(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100630271A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012102.2,