BTK, Bruton tyrosine kinase, 695

N. diseases: 290; N. variants: 85
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520045
rs1057520045
1.000 0.080 X 101375164 missense variant C/T snv
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 1999 1999