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rs128621194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128621194(C;T)
Make rs128621194(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101359325
GeneBTK
is asnp
is mentioned by
dbSNPrs128621194
ebirs128621194
HLIrs128621194
Exacrs128621194
Varsomers128621194
Maprs128621194
PheGenIrs128621194
hapmaprs128621194
1000 genomesrs128621194
hgdprs128621194
ensemblrs128621194
gopubmedrs128621194
geneviewrs128621194
scholarrs128621194
googlers128621194
pharmgkbrs128621194
gwascentralrs128621194
openSNPrs128621194
23andMers128621194
23andMe allrs128621194
SNP Nexus

SNPshotrs128621194
SNPdbers128621194
MSV3drs128621194
GWAS Ctlgrs128621194
Max Magnitude0
OMIM300300
Desc
Variant0025
Relatedalso
ClinVar
Risk rs128621194(T;T)
Alt rs128621194(T;T)
Reference rs128621194(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100614313G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012119.11,