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: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 < 0.001 1 2008 2008
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0027697
Disease: Nephritis
Nephritis 		0.010 < 0.001 1 2017 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2017 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		0.010 1.000 1 2007 2007
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		0.010 < 0.001 1 2009 2009
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2014 2014
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 1.000 1 2017 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.010 1.000 1 2015 2015
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 1.000 1 2011 2011
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2009 2009
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2014 2014
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 1.000 1 2011 2011
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		0.010 1.000 1 2013 2013
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2014 2014
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.010 1.000 1 2019 2019