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rs128621204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128621204(C;T)
Make rs128621204(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353936
GeneBTK
is asnp
is mentioned by
dbSNPrs128621204
ebirs128621204
HLIrs128621204
Exacrs128621204
Varsomers128621204
Maprs128621204
PheGenIrs128621204
hapmaprs128621204
1000 genomesrs128621204
hgdprs128621204
ensemblrs128621204
gopubmedrs128621204
geneviewrs128621204
scholarrs128621204
googlers128621204
pharmgkbrs128621204
gwascentralrs128621204
openSNPrs128621204
23andMers128621204
23andMe allrs128621204
SNP Nexus

SNPshotrs128621204
SNPdbers128621204
MSV3drs128621204
GWAS Ctlgrs128621204
Max Magnitude0
OMIM300300
Desc
Variant0042
Relatedalso
ClinVar
Risk rs128621204(T;T)
Alt rs128621204(T;T)
Reference rs128621204(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608924G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012136.11,