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: rs1057519827
rs1057519827
ESR1
6 152011697 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1182554992
rs1182554992
ESR1
6 151880688 missense variant A/G snv 8.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 < 0.001 1 2006 2006
dbSNP: rs1643821
rs1643821
ESR1
6 151862416 intron variant G/A snv 0.46
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		0.010 1.000 1 2008 2008
dbSNP: rs1643821
rs1643821
ESR1
6 151862416 intron variant G/A snv 0.46
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		0.010 1.000 1 2012 2012
dbSNP: rs2175898
rs2175898
ESR1
6 151875817 intron variant C/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2016 2016
dbSNP: rs2175898
rs2175898
ESR1
6 151875817 intron variant C/G;T snv
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.010 1.000 1 2016 2016
dbSNP: rs772596249
rs772596249
ESR1
6 151842724 missense variant G/A snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs772596249
rs772596249
ESR1
6 151842724 missense variant G/A snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs988328
rs988328
ESR1
6 151920015 intron variant T/C snv 0.15
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		0.010 1.000 1 2008 2008
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 1.000 11 2007 2020
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 1.000 10 2007 2020
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.050 0.800 5 2012 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.050 0.800 5 2012 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 1.000 4 2008 2014
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2011 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.030 0.667 3 2005 2013
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.020 1.000 2 2008 2009
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 1.000 2 2010 2015
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.020 1.000 2 2009 2018
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2005 2009
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 0.500 2 2010 2015
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2010 2018
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 1.000 2 2009 2013
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.020 1.000 2 2014 2015
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2010 2018