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rs128621193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128621193(C;T)
Make rs128621193(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101360581
GeneBTK
is asnp
is mentioned by
dbSNPrs128621193
ebirs128621193
HLIrs128621193
Exacrs128621193
Varsomers128621193
Maprs128621193
PheGenIrs128621193
hapmaprs128621193
1000 genomesrs128621193
hgdprs128621193
ensemblrs128621193
gopubmedrs128621193
geneviewrs128621193
scholarrs128621193
googlers128621193
pharmgkbrs128621193
gwascentralrs128621193
openSNPrs128621193
23andMers128621193
23andMe allrs128621193
SNP Nexus

SNPshotrs128621193
SNPdbers128621193
MSV3drs128621193
GWAS Ctlgrs128621193
Max Magnitude0
OMIM300300
Desc
Variant0022
Relatedalso
ClinVar
Risk rs128621193(T;T)
Alt rs128621193(T;T)
Reference rs128621193(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100615569G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012116.11,