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: rs1414323823
rs1414323823
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2011 2015
dbSNP: rs1414323823
rs1414323823
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 1.000 2 2011 2015
dbSNP: rs1414323823
rs1414323823
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
0.010 1.000 1 2014 2014
dbSNP: rs1414323823
rs1414323823
0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 1.000 1 2015 2015
dbSNP: rs779682021
rs779682021
0.882 0.120 15 74721227 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2007 2007
dbSNP: rs779682021
rs779682021
0.882 0.120 15 74721227 missense variant A/C snv
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.010 1.000 1 2014 2014
dbSNP: rs779682021
rs779682021
0.882 0.120 15 74721227 missense variant A/C snv
Malignant neoplasm of urinary bladder
0.010 1.000 1 2013 2013
dbSNP: rs779682021
rs779682021
0.882 0.120 15 74721227 missense variant A/C snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 1.000 1 2013 2013
dbSNP: rs779682021
rs779682021
0.882 0.120 15 74721227 missense variant A/C snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 1.000 1 2013 2013
dbSNP: rs1279844744
rs1279844744
0.925 0.080 15 74720521 missense variant A/G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2018 2018
dbSNP: rs1279844744
rs1279844744
0.925 0.080 15 74720521 missense variant A/G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 1.000 1 2015 2015
dbSNP: rs1279844744
rs1279844744
0.925 0.080 15 74720521 missense variant A/G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2015 2015
dbSNP: rs771432878
rs771432878
0.925 0.080 15 74723013 missense variant A/G snv 4.0E-06 3.5E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 1.000 1 2008 2008
dbSNP: rs771432878
rs771432878
0.925 0.080 15 74723013 missense variant A/G snv 4.0E-06 3.5E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 1.000 1 2008 2008
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.050 1.000 5 2011 2017
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.050 1.000 5 2011 2017
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.050 1.000 5 2011 2017
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.040 0.750 4 2010 2016
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.040 0.750 4 2010 2016
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.040 1.000 4 2010 2017
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.040 0.750 4 2016 2018
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.040 0.750 4 2010 2016
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 1.000 2 2007 2007
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.020 1.000 2 2014 2019
dbSNP: rs4646903
rs4646903
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.020 1.000 2 2013 2014