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rs128621207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128621207(A;A)
Make rs128621207(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353329
GeneBTK
is asnp
is mentioned by
dbSNPrs128621207
ebirs128621207
HLIrs128621207
Exacrs128621207
Varsomers128621207
Maprs128621207
PheGenIrs128621207
hapmaprs128621207
1000 genomesrs128621207
hgdprs128621207
ensemblrs128621207
gopubmedrs128621207
geneviewrs128621207
scholarrs128621207
googlers128621207
pharmgkbrs128621207
gwascentralrs128621207
openSNPrs128621207
23andMers128621207
23andMe allrs128621207
SNP Nexus

SNPshotrs128621207
SNPdbers128621207
MSV3drs128621207
GWAS Ctlgrs128621207
Max Magnitude0
OMIM300300
Desc
Variant0045
Relatedalso
ClinVar
Risk rs128621207(A;A)
Alt rs128621207(A;A)
Reference rs128621207(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608317G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012139.17,