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: 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: 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: C4086165
Disease: Childhood Neuroblastoma
Childhood 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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2011 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: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497 		0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 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: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0542476
Disease: Forgetful
Forgetful 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2696056
rs2696056 		1.000 0.080 4 184634082 intron variant C/A;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2720378
rs2720378 		1.000 0.120 4 184646959 intron variant C/A;G;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: 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: 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: 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