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rs864321665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864321665(-;A)
Make rs864321665(A;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101362203
GeneBTK
is asnp
is mentioned by
dbSNPrs864321665
dbSNP (old)rs864321665
ClinGenrs864321665
ebirs864321665
HLIrs864321665
Exacrs864321665
Gnomadrs864321665
Varsomers864321665
Maprs864321665
PheGenIrs864321665
Biobankrs864321665
1000 genomesrs864321665
hgdprs864321665
ensemblrs864321665
gopubmedrs864321665
geneviewrs864321665
scholarrs864321665
googlers864321665
pharmgkbrs864321665
gwascentralrs864321665
openSNPrs864321665
23andMers864321665
23andMe allrs864321665
SNP Nexus

SNPshotrs864321665
SNPdbers864321665
MSV3drs864321665
GWAS Ctlgrs864321665
Max Magnitude0
ClinVar
Risk rs864321665(A;A)
Alt rs864321665(A;A)
Reference Rs864321665(-;-)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100617192dupT
CLNSRC BTK @ LOVD OMIM Allelic Variant
CLNACC RCV000012111.2,