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: 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: 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
dbSNP: rs2227310
rs2227310 		0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2013
dbSNP: rs2227309
rs2227309 		1.000 0.120 10 113729408 missense variant G/A snv 0.26 0.23
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2007 2008
dbSNP: rs2227310
rs2227310 		0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2009 2012
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