Source: ALL

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: C0034072
Disease: Cor pulmonale
Cor pulmonale
0.010 1.000 1 2000 2000
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C3178801
Disease: Stroke, Lacunar
Stroke, Lacunar
0.010 1.000 1 2000 2000
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0751955
Disease: Brain Infarction
Brain Infarction
0.010 1.000 1 2000 2000
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy
0.010 1.000 1 2001 2001
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2001 2001
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension
0.010 1.000 1 2001 2001
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY
0.010 1.000 1 2001 2001
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
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: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
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: 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: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
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: C0035435
Disease: Rheumatism
Rheumatism
0.010 1.000 1 2003 2003
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1
0.010 1.000 1 2003 2003
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0375071
Disease: Malignant neoplasm of vulva
Malignant neoplasm of vulva
0.010 < 0.001 1 2004 2004
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0268790
Disease: Renal vascular disorder
Renal vascular disorder
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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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: C0677055
Disease: CARCINOMA OF VULVA
CARCINOMA OF VULVA
0.010 < 0.001 1 2004 2004
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C4552766
Disease: Miscarriage
Miscarriage
0.010 < 0.001 1 2004 2004
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular
0.010 1.000 1 2004 2004
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: C0948698
Disease: Coronary spastic angina
Coronary spastic angina
0.020 1.000 2 1998 2005
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.010 1.000 1 2005 2005