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rs128621190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128621190(A;A)
Make rs128621190(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101370051
GeneBTK
is asnp
is mentioned by
dbSNPrs128621190
ebirs128621190
HLIrs128621190
Exacrs128621190
Varsomers128621190
Maprs128621190
PheGenIrs128621190
hapmaprs128621190
1000 genomesrs128621190
hgdprs128621190
ensemblrs128621190
gopubmedrs128621190
geneviewrs128621190
scholarrs128621190
googlers128621190
pharmgkbrs128621190
gwascentralrs128621190
openSNPrs128621190
23andMers128621190
23andMe allrs128621190
SNP Nexus

SNPshotrs128621190
SNPdbers128621190
MSV3drs128621190
GWAS Ctlgrs128621190
Max Magnitude0
OMIM300300
Desc
Variant0015
Relatedalso
ClinVar
Risk rs128621190(A;A)
Alt rs128621190(A;A)
Reference rs128621190(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100625039A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012109.11,