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: rs988328
rs988328 		6 151920015 intron variant T/C snv 0.15
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs985192
rs985192 		1.000 0.040 6 151962343 intron variant A/C snv 0.76
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9479118
rs9479118 		0.925 0.080 6 151797989 intron variant T/C snv 1.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9479118
rs9479118 		0.925 0.080 6 151797989 intron variant T/C snv 1.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9397456
rs9397456 		0.882 0.160 6 151926017 intron variant A/G;T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs9397456
rs9397456 		0.882 0.160 6 151926017 intron variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs9397456
rs9397456 		0.882 0.160 6 151926017 intron variant A/G;T snv
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs9397080
rs9397080 		1.000 0.040 6 152059380 intron variant C/T snv 0.22
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs9397080
rs9397080 		1.000 0.040 6 152059380 intron variant C/T snv 0.22
CUI: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs9383951
rs9383951 		1.000 0.080 6 151974478 intron variant G/C snv 5.1E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs9383938
rs9383938 		0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 3 2011 2014
dbSNP: rs9383938
rs9383938 		0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 3 2011 2014
dbSNP: rs9383938
rs9383938 		0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9383938
rs9383938 		0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs9383938
rs9383938 		0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9341074
rs9341074 		6 152101320 3 prime UTR variant T/A snv 1.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341059
rs9341059 		6 152097101 intron variant C/A;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341059
rs9341059 		6 152097101 intron variant C/A;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341059
rs9341059 		6 152097101 intron variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341059
rs9341059 		6 152097101 intron variant C/A;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341023
rs9341023 		6 152062578 intron variant C/T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341023
rs9341023 		6 152062578 intron variant C/T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341023
rs9341023 		6 152062578 intron variant C/T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341023
rs9341023 		6 152062578 intron variant C/T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9341023
rs9341023 		6 152062578 intron variant C/T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012