Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2013 2018
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2013 2018
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2010 2014
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.020 1.000 2 2011 2014
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2011 2014
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 2010 2014
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 1.000 2 2010 2014
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 1.000 2 2010 2014
dbSNP: rs2705897
rs2705897
CASP3
0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2013 2018
dbSNP: rs2705897
rs2705897
CASP3
0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2018
dbSNP: rs4647603
rs4647603
CASP3 ; PRIMPOL
0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2018
dbSNP: rs4647603
rs4647603
CASP3 ; PRIMPOL
0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2013 2018
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2007 2007
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2018 2018
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216
CASP3
0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2017 2017
dbSNP: rs1049253
rs1049253
CASP3
0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 < 0.001 1 2013 2013
dbSNP: rs1049253
rs1049253
CASP3
0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.010 < 0.001 1 2013 2013
dbSNP: rs1049253
rs1049253
CASP3
0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1049253
rs1049253
CASP3
0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs111512673
rs111512673
CASP3
1.000 0.120 4 184632303 missense variant A/G snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 1.000 1 2010 2010
dbSNP: rs113420705
rs113420705
CASP3 ; PRIMPOL
0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2013 2013