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: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 1.000 1 2016 2016
dbSNP: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2016 2016
dbSNP: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
0.010 1.000 1 2017 2017
dbSNP: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
0.010 1.000 1 2011 2011
dbSNP: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 1.000 1 2016 2016
dbSNP: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2016 2016
dbSNP: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
0.010 1.000 1 2011 2011
dbSNP: rs11771443
rs11771443
0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16
Diabetes Mellitus, Non-Insulin-Dependent
0.010 1.000 1 2016 2016
dbSNP: rs1314305899
rs1314305899
0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05
CUI: C0036221
Disease: Mast-Cell Sarcoma
Mast-Cell Sarcoma
0.010 1.000 1 2015 2015
dbSNP: rs1314305899
rs1314305899
0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs1314305899
rs1314305899
0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
0.010 1.000 1 2015 2015
dbSNP: rs1314305899
rs1314305899
0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
0.010 1.000 1 2015 2015
dbSNP: rs1314305899
rs1314305899
0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2006 2006
dbSNP: rs1314305899
rs1314305899
0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2009 2009
dbSNP: rs1341139296
rs1341139296
7 150998546 missense variant A/G snv 8.2E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 1.000 1 2017 2017
dbSNP: rs1346272741
rs1346272741
1.000 0.040 7 150999064 missense variant A/C snv 4.0E-06
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
0.010 1.000 1 2018 2018
dbSNP: rs1359984100
rs1359984100
1.000 0.040 7 151010603 stop gained C/T snv 7.0E-06
Idiopathic pulmonary arterial hypertension
0.010 1.000 1 2016 2016
dbSNP: rs1390448535
rs1390448535
7 151007245 missense variant C/G snv 4.2E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.010 1.000 1 2010 2010
dbSNP: rs1459678828
rs1459678828
0.925 0.080 7 150998383 synonymous variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2007 2007
dbSNP: rs1459678828
rs1459678828
0.925 0.080 7 150998383 synonymous variant T/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2007 2007
dbSNP: rs1477816966
rs1477816966
1.000 0.040 7 151010703 missense variant A/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 1.000 1 2005 2005
dbSNP: rs1541861
rs1541861
0.925 0.040 7 151000245 intron variant C/A snv 0.70
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2006 2006
dbSNP: rs1541861
rs1541861
0.925 0.040 7 151000245 intron variant C/A snv 0.70
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2016 2016
dbSNP: rs1549758
rs1549758
0.807 0.360 7 150998638 synonymous variant T/C snv 0.76 0.76
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 1.000 1 2007 2007
dbSNP: rs1549758
rs1549758
0.807 0.360 7 150998638 synonymous variant T/C snv 0.76 0.76
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2014 2014