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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2018
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2012 2012
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008
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: 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: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2010 2010
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2010 2010
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2010 2010
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2010 2010
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2010 2010
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 1.000 1 2012 2012
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: 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: 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: 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: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017