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rs128622211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128622211(G;T)
Make rs128622211(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353196
GeneBTK
is asnp
is mentioned by
dbSNPrs128622211
ebirs128622211
HLIrs128622211
Exacrs128622211
Varsomers128622211
Maprs128622211
PheGenIrs128622211
hapmaprs128622211
1000 genomesrs128622211
hgdprs128622211
ensemblrs128622211
gopubmedrs128622211
geneviewrs128622211
scholarrs128622211
googlers128622211
pharmgkbrs128622211
gwascentralrs128622211
openSNPrs128622211
23andMers128622211
23andMe allrs128622211
SNP Nexus

SNPshotrs128622211
SNPdbers128622211
MSV3drs128622211
GWAS Ctlgrs128622211
Max Magnitude0
OMIM300300
Desc
Variant0049
Relatedalso
ClinVar
Risk rs128622211(T;T)
Alt rs128622211(T;T)
Reference rs128622211(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608184C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012143.2,