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: 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: 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: 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: rs6735656
rs6735656 		2 201259779 intron variant G/T snv 0.73
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3769823
rs3769823 		0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823 		0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823 		0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2017 2017
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: rs3769823
rs3769823 		0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2017 2017
dbSNP: rs7608692
rs7608692 		0.925 0.040 2 201246236 intron variant G/A snv 0.20
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7608692
rs7608692 		0.925 0.040 2 201246236 intron variant G/A snv 0.20
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
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: 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: 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: 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