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rs128620188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128620188(C;T)
Make rs128620188(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101375242
GeneBTK
is asnp
is mentioned by
dbSNPrs128620188
ebirs128620188
HLIrs128620188
Exacrs128620188
Varsomers128620188
Maprs128620188
PheGenIrs128620188
hapmaprs128620188
1000 genomesrs128620188
hgdprs128620188
ensemblrs128620188
gopubmedrs128620188
geneviewrs128620188
scholarrs128620188
googlers128620188
pharmgkbrs128620188
gwascentralrs128620188
openSNPrs128620188
23andMers128620188
23andMe allrs128620188
SNP Nexus

SNPshotrs128620188
SNPdbers128620188
MSV3drs128620188
GWAS Ctlgrs128620188
Max Magnitude0
OMIM300300
Desc
Variant0009
Relatedalso
ClinVar
Risk rs128620188(T;T)
Alt rs128620188(T;T)
Reference rs128620188(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100630230G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012098.11,