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rs864321660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGA;AAGA) 0 common in clinvar
Make rs864321660(-;-)
Make rs864321660(-;AAGA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101374545
GeneBTK
is asnp
is mentioned by
dbSNPrs864321660
dbSNP (classic)rs864321660
ClinGenrs864321660
ebirs864321660
HLIrs864321660
Exacrs864321660
Gnomadrs864321660
Varsomers864321660
LitVarrs864321660
Maprs864321660
PheGenIrs864321660
Biobankrs864321660
1000 genomesrs864321660
hgdprs864321660
ensemblrs864321660
geneviewrs864321660
scholarrs864321660
googlers864321660
pharmgkbrs864321660
gwascentralrs864321660
openSNPrs864321660
23andMers864321660
SNPshotrs864321660
SNPdbers864321660
MSV3drs864321660
GWAS Ctlgrs864321660
Max Magnitude0
ClinVar
Risk rs864321660(-;-)
Alt rs864321660(-;-)
Reference Rs864321660(AAGA;AAGA)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100629533_100629536delTCTT
CLNSRC BTK @ LOVD OMIM Allelic Variant
CLNACC RCV000012105.17,