CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
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: rs17860424
rs17860424
1.000 0.120 2 201276908 missense variant C/T snv 1.2E-05 7.0E-06
Autoimmune Lymphoproliferative Syndrome Type 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs587776665
rs587776665
1.000 0.080 2 201285238 frameshift variant GT/- delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1221800282
rs1221800282
0.925 0.080 2 201276921 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1221800282
rs1221800282
0.925 0.080 2 201276921 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs34210251
rs34210251
0.925 0.080 2 201258305 missense variant C/A;G;T snv 2.3E-04; 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs34210251
rs34210251
0.925 0.080 2 201258305 missense variant C/A;G;T snv 2.3E-04; 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs779189628
rs779189628
0.925 0.120 2 201284885 missense variant A/G snv 4.0E-06
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs779189628
rs779189628
0.925 0.120 2 201284885 missense variant A/G snv 4.0E-06
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1044484322
rs1044484322
0.925 0.080 2 201271565 missense variant T/A;G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1044484322
rs1044484322
0.925 0.080 2 201271565 missense variant T/A;G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs13113
rs13113
0.925 0.200 2 201287439 3 prime UTR variant T/A snv 0.33
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2008 2008
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs3834129
rs3834129
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs772151801
rs772151801
1.000 0.080 2 201266579 synonymous variant G/A;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2009 2009