BTK, Bruton tyrosine kinase, 695

N. diseases: 233; N. variants: 6
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
dbSNP: rs1057519825
rs1057519825 		0.882 0.120 X 101356176 missense variant C/G snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.050 1.000 5 2015 2018
dbSNP: rs1057519826
rs1057519826 		0.882 0.120 X 101356177 missense variant A/T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.050 1.000 5 2015 2018
dbSNP: rs1057519825
rs1057519825 		0.882 0.120 X 101356176 missense variant C/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs1057519826
rs1057519826 		0.882 0.120 X 101356177 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs1057519825
rs1057519825 		0.882 0.120 X 101356176 missense variant C/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519825
rs1057519825 		0.882 0.120 X 101356176 missense variant C/G snv
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057519825
rs1057519825 		0.882 0.120 X 101356176 missense variant C/G snv
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057519825
rs1057519825 		0.882 0.120 X 101356176 missense variant C/G snv
CUI: C0677936
Disease: Refractory cancer
Refractory cancer 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519826
rs1057519826 		0.882 0.120 X 101356177 missense variant A/T snv
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057519826
rs1057519826 		0.882 0.120 X 101356177 missense variant A/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519826
rs1057519826 		0.882 0.120 X 101356177 missense variant A/T snv
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057519826
rs1057519826 		0.882 0.120 X 101356177 missense variant A/T snv
CUI: C0677936
Disease: Refractory cancer
Refractory cancer 		Neoplasms 0.010 1.000 1 2018 2018
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