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: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2005 2014
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 1.000 3 2009 2015
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 1.000 3 2009 2015
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2005 2014
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.020 0.500 2 2008 2014
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.020 1.000 2 2009 2012
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.020 1.000 2 2011 2018
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.020 1.000 2 2011 2018
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.020 1.000 2 2011 2018
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.020 1.000 2 2008 2011
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		0.020 1.000 2 2009 2012
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.010 1.000 1 2014 2014
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		0.010 1.000 1 2010 2010
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 1.000 1 2010 2010
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2012 2012
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 1.000 1 2017 2017
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2008 2008
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2012 2012
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2019 2019
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2019 2019