BTK, Bruton tyrosine kinase, 695

N. diseases: 233; N. variants: 6
Disease: Immunologic Deficiency Syndromes ×
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: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		Immune System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs128621195
rs128621195 		1.000 0.120 X 101358672 missense variant T/C snv
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		Immune System Diseases 0.010 1.000 1 1997 1997