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rs864321659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321659(A;A)
Make rs864321659(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101353865
GeneBTK
is asnp
is mentioned by
dbSNPrs864321659
dbSNP (classic)rs864321659
ClinGenrs864321659
ebirs864321659
HLIrs864321659
Exacrs864321659
Gnomadrs864321659
Varsomers864321659
LitVarrs864321659
Maprs864321659
PheGenIrs864321659
Biobankrs864321659
1000 genomesrs864321659
hgdprs864321659
ensemblrs864321659
geneviewrs864321659
scholarrs864321659
googlers864321659
pharmgkbrs864321659
gwascentralrs864321659
openSNPrs864321659
23andMers864321659
SNPshotrs864321659
SNPdbers864321659
MSV3drs864321659
GWAS Ctlgrs864321659
Max Magnitude0
ClinVar
Risk rs864321659(A;A)
Alt rs864321659(A;A)
Reference Rs864321659(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia with growth hormone deficiency
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia with growth hormone deficiency
Reversed 1
HGVS NC_000023.10:g.100608853C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012100.11,