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: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2008 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2008 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.040 1.000 4 2008 2019
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2012 2017
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2012 2019
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2012 2019
dbSNP: rs3769821
rs3769821 		0.851 0.200 2 201258707 intron variant C/T snv 0.57
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 0.500 2 2017 2019
dbSNP: rs3769821
rs3769821 		0.851 0.200 2 201258707 intron variant C/T snv 0.57
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2013
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2018
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2013
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2009 2019
dbSNP: rs1045494
rs1045494 		0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1045494
rs1045494 		0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1045494
rs1045494 		0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10931933
rs10931933 		2 201247748 intron variant G/A;C;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10931936
rs10931936 		0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs113686495
rs113686495 		0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs113686495
rs113686495 		0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs113686495
rs113686495 		0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011