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rs1057520045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520045(A;A)
Make rs1057520045(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position101375164
GeneBTK
is asnp
is mentioned by
dbSNPrs1057520045
dbSNP (old)rs1057520045
ClinGenrs1057520045
ebirs1057520045
HLIrs1057520045
Exacrs1057520045
Gnomadrs1057520045
Varsomers1057520045
Maprs1057520045
PheGenIrs1057520045
Biobankrs1057520045
1000 genomesrs1057520045
hgdprs1057520045
ensemblrs1057520045
gopubmedrs1057520045
geneviewrs1057520045
scholarrs1057520045
googlers1057520045
pharmgkbrs1057520045
gwascentralrs1057520045
openSNPrs1057520045
23andMers1057520045
23andMe allrs1057520045
SNPshotrs1057520045
SNPdbers1057520045
MSV3drs1057520045
GWAS Ctlgrs1057520045
Max Magnitude0
ClinVar
Risk rs1057520045(A;A)
Alt rs1057520045(A;A)
Reference Rs1057520045(G;G)
Significance Probable-Pathogenic
Disease Agammaglobulinemia
Variation info
Gene BTK
CLNDBN Agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100630152C>T
CLNSRC
CLNACC RCV000439020.1,