ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9341023
rs9341023 		6 152062578 intron variant C/T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9340996
rs9340996 		6 152021653 intron variant G/T snv 1.1E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9340978
rs9340978 		1.000 0.040 6 152012810 intron variant G/A snv 4.9E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9340958
rs9340958 		1.000 0.040 6 152009538 intron variant C/T snv 8.5E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9340953
rs9340953 		6 151998730 intron variant G/A snv 9.8E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9340922
rs9340922 		6 151971471 intron variant A/C snv 5.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9340907
rs9340907 		6 151950843 intron variant G/T snv 2.6E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9340907
rs9340907 		6 151950843 intron variant G/T snv 2.6E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9340907
rs9340907 		6 151950843 intron variant G/T snv 2.6E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9340803
rs9340803 		0.925 0.080 6 151842832 intron variant A/G snv 1.0E-03 3.8E-04
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs9340803
rs9340803 		0.925 0.080 6 151842832 intron variant A/G snv 1.0E-03 3.8E-04
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.070 0.857 7 2007 2020
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.070 0.857 7 2007 2020
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.030 1.000 3 2011 2017
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.030 1.000 3 2011 2017
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.030 1.000 3 2011 2017
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2014 2014
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 0.500 2 2010 2015
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.020 1.000 2 2014 2015
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.020 1.000 2 2012 2012
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2005 2013
dbSNP: rs9340799
rs9340799 		0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2008 2009