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: rs10787498
rs10787498 		0.925 0.080 10 113729891 3 prime UTR variant T/G snv 0.38
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs10787498
rs10787498 		0.925 0.080 10 113729891 3 prime UTR variant T/G snv 0.38
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
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: 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: rs1127687
rs1127687 		0.925 0.080 10 113730350 3 prime UTR variant G/A snv 0.23
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1127687
rs1127687 		0.925 0.080 10 113730350 3 prime UTR variant G/A snv 0.23
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12247479
rs12247479 		0.925 0.080 10 113730301 3 prime UTR variant G/A snv 0.16
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12247479
rs12247479 		0.925 0.080 10 113730301 3 prime UTR variant G/A snv 0.16
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; 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: 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: 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: rs2227310
rs2227310 		0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2227310
rs2227310 		0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2227310
rs2227310 		0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2015 2015