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: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.020 1.000 2 2009 2012
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.030 1.000 3 2004 2012
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0267797
Disease: Acute hepatitis
Acute hepatitis
0.010 1.000 1 2014 2014
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness
0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.030 0.667 3 2002 2015
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
Aggressive periodontitis, generalized
0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.030 1.000 3 2000 2010
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 0.875 8 2000 2015
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
0.020 1.000 2 2013 2017
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0162869
Disease: Aneurysm, Ruptured
Aneurysm, Ruptured
0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.020 1.000 2 2005 2010
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.100 0.818 11 1999 2018
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.010 < 0.001 1 2015 2015
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0004096
Disease: Asthma
Asthma
0.060 0.667 6 2002 2012
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency
0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 0.818 11 1999 2018
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
Atherosclerotic renal artery stenosis
0.010 1.000 1 2004 2004
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.010 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.010 1.000 1 2014 2014