CASP3, caspase 3, 836

N. diseases: 819; N. variants: 26
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: rs750802459
rs750802459 		1.000 0.120 4 184635342 frameshift variant TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- delins 5.6E-05
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2000 2000
dbSNP: rs964793521
rs964793521 		0.925 0.080 4 184638460 5 prime UTR variant C/T snv 1.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs964793521
rs964793521 		0.925 0.080 4 184638460 5 prime UTR variant C/T snv 1.4E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs6948
rs6948 		1.000 0.120 4 184627976 3 prime UTR variant G/T snv 0.48
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2705901
rs2705901 		4 184638333 intron variant G/C snv 0.88
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2705901
rs2705901 		4 184638333 intron variant G/C snv 0.88
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2010 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs111512673
rs111512673 		1.000 0.120 4 184632303 missense variant A/G snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1485215606
rs1485215606 		1.000 0.040 4 184632296 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2011 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4647600
rs4647600 		4 184649745 5 prime UTR variant T/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647600
rs4647600 		4 184649745 5 prime UTR variant T/C;G snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647608
rs4647608 		4 184647083 intron variant C/T snv 1.7E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647614
rs4647614 		4 184646349 intron variant T/C snv 5.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647641
rs4647641 		4 184640236 intron variant T/G snv 3.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647641
rs4647641 		4 184640236 intron variant T/G snv 3.6E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647665
rs4647665 		4 184634712 intron variant A/G snv 5.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647667
rs4647667 		4 184634471 intron variant G/A snv 1.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2013 2018