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
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: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 < 0.001 1 2010 2010
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: 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: rs779189628
rs779189628 		0.925 0.120 2 201284885 missense variant A/G snv 4.0E-06
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
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: 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: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 0.750 4 2010 2014
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 0.800 5 2010 2018
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.875 16 2004 2019
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.882 17 2004 2019
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: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2011 2019
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2008 2016
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2010 2010
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2010 2010
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2009 2016
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2009 2016