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: rs1045487
rs1045487 		1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1045487
rs1045487 		1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2017 2017
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: rs59308963
rs59308963 		1.000 0.080 2 201258757 intron variant ATTCTGTC/- delins 0.72
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6736233
rs6736233 		1.000 0.120 2 201254251 intron variant G/C snv 0.16
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
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: rs17860424
rs17860424 		1.000 0.120 2 201276908 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
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: 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: 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: 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: 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: rs3769825
rs3769825 		0.925 0.120 2 201246657 intron variant A/G snv 0.46
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013