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: 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: 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
dbSNP: rs113686495
rs113686495 		0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
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: rs1301592633
rs1301592633 		2 201285251 missense variant G/A snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs13113
rs13113 		0.925 0.200 2 201287439 3 prime UTR variant T/A snv 0.33
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2020 2020
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: rs1458511470
rs1458511470 		2 201272639 frameshift variant -/C delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1458511470
rs1458511470 		2 201272639 frameshift variant -/C delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1477247624
rs1477247624 		1.000 0.120 2 201285277 missense variant A/C snv 4.0E-06
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2037815
rs2037815 		0.925 0.080 2 201236992 intron variant G/A snv 0.55
CUI: C0751964
Disease: Multiple Sclerosis, Primary Progressive
Multiple Sclerosis, Primary Progressive 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2037815
rs2037815 		0.925 0.080 2 201236992 intron variant G/A snv 0.55
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2293554
rs2293554 		0.925 0.080 2 201266864 intron variant T/G snv 0.18
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2293554
rs2293554 		0.925 0.080 2 201266864 intron variant T/G snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
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: rs3769821
rs3769821 		0.851 0.200 2 201258707 intron variant C/T snv 0.57
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs3769823
rs3769823 		0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823 		0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3769827
rs3769827 		0.925 0.120 2 201237962 intron variant A/G snv 0.42
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011