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: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
Secondary malignant neoplasm of lymph node
0.010 < 0.001 1 2019 2019
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0085605
Disease: Liver Failure
Liver Failure
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: C0878552
Disease: Coronary artery ectasia
Coronary artery ectasia
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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
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: 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: 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: C0155765
Disease: Disease of capillaries
Disease of capillaries
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: 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: C0005750
Disease: Blind Loop Syndrome
Blind Loop Syndrome
0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0028960
Disease: Oligospermia
Oligospermia
0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures
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: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma
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: C0206064
Disease: Microvascular Angina
Microvascular Angina
0.010 1.000 1 2010 2010
dbSNP: rs1799983
rs1799983
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
0.010 1.000 1 2010 2010
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: 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: 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
Cleft Lip with or without Cleft Palate
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: 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: 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: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
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: 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: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
0.010 1.000 1 2012 2012
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