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rs104894770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894770(C;C)
Make rs104894770(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353935
GeneBTK
is asnp
is mentioned by
dbSNPrs104894770
dbSNP (classic)rs104894770
ClinGenrs104894770
ebirs104894770
HLIrs104894770
Exacrs104894770
Gnomadrs104894770
Varsomers104894770
LitVarrs104894770
Maprs104894770
PheGenIrs104894770
Biobankrs104894770
1000 genomesrs104894770
hgdprs104894770
ensemblrs104894770
geneviewrs104894770
scholarrs104894770
googlers104894770
pharmgkbrs104894770
gwascentralrs104894770
openSNPrs104894770
23andMers104894770
SNPshotrs104894770
SNPdbers104894770
MSV3drs104894770
GWAS Ctlgrs104894770
Merged fromRs28935176
Max Magnitude0
OMIM300300
Desc
Variant0053
Relatedalso
ClinVar
Risk rs104894770(C;C)
Alt rs104894770(C;C)
Reference Rs104894770(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia not provided
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia not provided
Reversed 1
HGVS NC_000023.10:g.100608923C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012147.11, RCV000485427.1,