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rs28935478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28935478(A;G)
Make rs28935478(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101358330
GeneBTK
is asnp
is mentioned by
dbSNPrs28935478
ebirs28935478
HLIrs28935478
Exacrs28935478
Varsomers28935478
Maprs28935478
PheGenIrs28935478
hapmaprs28935478
1000 genomesrs28935478
hgdprs28935478
ensemblrs28935478
gopubmedrs28935478
geneviewrs28935478
scholarrs28935478
googlers28935478
pharmgkbrs28935478
gwascentralrs28935478
openSNPrs28935478
23andMers28935478
23andMe allrs28935478
SNP Nexus

SNPshotrs28935478
SNPdbers28935478
MSV3drs28935478
GWAS Ctlgrs28935478
Max Magnitude0
OMIM300300
DescHYPOAGAMMAGLOBULINEMIA, X-LINKED
Variant0003
Relatedalso
Neighborrs28935176
Distance4395


ClinVar
Risk rs28935478(G;G)
Alt rs28935478(G;G)
Reference rs28935478(A;A)
Significance Pathogenic
Disease Hypoagammaglobulinemia
Variation info
Gene BTK
CLNDBN Hypoagammaglobulinemia, X-linked
Reversed 1
HGVS NC_000023.10:g.100613318T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012099.2,