CASP7, caspase 7, 840

N. diseases: 83; N. variants: 16
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: rs12415607
rs12415607 		0.827 0.160 10 113678445 upstream gene variant C/A snv 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12415607
rs12415607 		0.827 0.160 10 113678445 upstream gene variant C/A snv 0.22
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12415607
rs12415607 		0.827 0.160 10 113678445 upstream gene variant C/A snv 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12415607
rs12415607 		0.827 0.160 10 113678445 upstream gene variant C/A snv 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12415607
rs12415607 		0.827 0.160 10 113678445 upstream gene variant C/A snv 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12415607
rs12415607 		0.827 0.160 10 113678445 upstream gene variant C/A snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12415607
rs12415607 		0.827 0.160 10 113678445 upstream gene variant C/A snv 0.22
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11196418
rs11196418 		0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs11196418
rs11196418 		0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs11196418
rs11196418 		0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs11196418
rs11196418 		0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs1410508127
rs1410508127 		0.882 0.080 10 113679831 missense variant A/C;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1410508127
rs1410508127 		0.882 0.080 10 113679831 missense variant A/C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1410508127
rs1410508127 		0.882 0.080 10 113679831 missense variant A/C;G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3124740
rs3124740 		10 113709866 intron variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3124740
rs3124740 		10 113709866 intron variant C/A;G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs11196445
rs11196445 		0.925 0.080 10 113710131 intron variant G/A snv 0.11
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs11196445
rs11196445 		0.925 0.080 10 113710131 intron variant G/A snv 0.11
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs3127075
rs3127075 		1.000 0.080 10 113712354 intron variant G/A;C snv
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs778574118
rs778574118 		1.000 0.040 10 113721138 missense variant A/G snv 4.0E-06
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3814231
rs3814231 		1.000 0.040 10 113721259 intron variant C/T snv 0.23
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.800 1.000 1 2012 2012
dbSNP: rs552479055
rs552479055 		1.000 0.040 10 113726306 missense variant C/T snv 4.0E-06
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12771452
rs12771452 		1.000 0.040 10 113728572 intron variant G/A snv 0.23
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2227310
rs2227310 		0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2013
dbSNP: rs2227310
rs2227310 		0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2013