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: 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
dbSNP: rs113420705
rs113420705
CASP3 ; PRIMPOL
0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs113420705
rs113420705
CASP3 ; PRIMPOL
0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 1.000 1 2015 2015
dbSNP: rs113420705
rs113420705
CASP3 ; PRIMPOL
0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1405937
rs1405937
CASP3 ; PRIMPOL
1.000 0.080 4 184650784 intron variant G/C snv 0.29
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2011 2011
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0542476
Disease: Forgetful
Forgetful 		0.010 1.000 1 2014 2014