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rs128621201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128621201(C;T)
Make rs128621201(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356060
GeneBTK
is asnp
is mentioned by
dbSNPrs128621201
ebirs128621201
HLIrs128621201
Exacrs128621201
Varsomers128621201
Maprs128621201
PheGenIrs128621201
hapmaprs128621201
1000 genomesrs128621201
hgdprs128621201
ensemblrs128621201
gopubmedrs128621201
geneviewrs128621201
scholarrs128621201
googlers128621201
pharmgkbrs128621201
gwascentralrs128621201
openSNPrs128621201
23andMers128621201
23andMe allrs128621201
SNP Nexus

SNPshotrs128621201
SNPdbers128621201
MSV3drs128621201
GWAS Ctlgrs128621201
Max Magnitude0
OMIM300300
Desc
Variant0036
Relatedalso
ClinVar
Risk rs128621201(T;T)
Alt rs128621201(T;T)
Reference rs128621201(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611048G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012130.11,