Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.050 0.800 5 2006 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.050 0.800 5 2006 2019
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.030 1.000 3 2005 2015
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.030 1.000 3 2005 2015
Carcinoma of larynx
CUI: C0595989
Disease: Carcinoma of larynx
65 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2014 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2012 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 0.500 2 2010 2018
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 0.500 2 2011 2015
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
222 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2013 2015
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 0.500 2 2011 2015
Malignant neoplasm of larynx
CUI: C0007107
Disease: Malignant neoplasm of larynx
50 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2014 2015
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2012 2016
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2012 2016
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2013 2013
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2013 2013
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1 2018 2018
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1 2018 2018
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2010 2010
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2013 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2015 2015
Menopausal symptom
CUI: C0236075
Disease: Menopausal symptom
4 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2018 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2007 2007
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2015 2015
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2014 2014