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: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.070 0.857 7 2007 2020
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.857 7 2007 2020
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.030 1.000 3 2011 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.030 1.000 3 2011 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.030 1.000 3 2011 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2014 2014
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		0.020 0.500 2 2009 2014
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2014 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.020 1.000 2 2008 2009
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.020 1.000 2 2008 2009
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 0.500 2 2010 2015
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.020 1.000 2 2012 2012
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 1.000 2 2014 2015
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 1.000 2 2005 2013
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 < 0.001 1 2008 2008
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2013 2013
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 < 0.001 1 2013 2013
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0006145
Disease: Breast Diseases
Breast Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 1.000 1 2011 2011
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.010 1.000 1 2012 2012
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 1 2013 2013