BTK, Bruton tyrosine kinase, 695

N. diseases: 233; N. variants: 6
Disease: X-linked agammaglobulinemia ×
Source: BEFREE ×
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: rs128620185
rs128620185 		0.882 0.240 X 101375202 missense variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.810 1.000 1 1994 2000
dbSNP: rs128620189
rs128620189 		1.000 0.120 X 101375188 missense variant T/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.810 1.000 1 1994 2000
dbSNP: rs128621190
rs128621190 		1.000 0.120 X 101370051 missense variant A/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.810 1.000 1 1994 2000