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rs128620189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs128620189(A;C)
Make rs128620189(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101375188
GeneBTK
is asnp
is mentioned by
dbSNPrs128620189
ebirs128620189
HLIrs128620189
Exacrs128620189
Varsomers128620189
Maprs128620189
PheGenIrs128620189
hapmaprs128620189
1000 genomesrs128620189
hgdprs128620189
ensemblrs128620189
gopubmedrs128620189
geneviewrs128620189
scholarrs128620189
googlers128620189
pharmgkbrs128620189
gwascentralrs128620189
openSNPrs128620189
23andMers128620189
23andMe allrs128620189
SNP Nexus

SNPshotrs128620189
SNPdbers128620189
MSV3drs128620189
GWAS Ctlgrs128620189
Max Magnitude0
OMIM300300
Desc
Variant0010
Relatedalso
ClinVar
Risk rs128620189(C;C)
Alt rs128620189(C;C)
Reference rs128620189(A;A)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100630176T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012104.2,