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: rs1182554992
rs1182554992 		6 151880688 missense variant A/G snv 8.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1206642175
rs1206642175 		0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1206642175
rs1206642175 		0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1206642175
rs1206642175 		0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1207112399
rs1207112399 		0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1207112399
rs1207112399 		0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1207112399
rs1207112399 		0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12154178
rs12154178 		0.925 0.040 6 151929945 intron variant C/A snv 0.59
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12154178
rs12154178 		0.925 0.040 6 151929945 intron variant C/A snv 0.59
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913043
rs121913043 		6 152061094 missense variant TG/GC mnv
CUI: C4016037
Disease: ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE 		0.700 0
dbSNP: rs12525163
rs12525163 		0.925 0.080 6 151719156 intron variant T/C snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12525163
rs12525163 		0.925 0.080 6 151719156 intron variant T/C snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1293936
rs1293936 		6 151696556 intron variant T/G snv 0.45
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs13192976
rs13192976 		6 151991280 intron variant A/T snv 0.16
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs1321402467
rs1321402467 		0.925 0.080 6 151808327 missense variant T/C snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1321402467
rs1321402467 		0.925 0.080 6 151808327 missense variant T/C snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1336981
rs1336981 		6 151761234 intron variant C/T snv 0.74
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1364963022
rs1364963022 		0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs139960913
rs139960913 		1.000 0.080 6 151807928 missense variant C/T snv 3.3E-03 3.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1415193
rs1415193 		6 151771503 intron variant T/A snv 0.37
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1415194
rs1415194 		6 151742863 intron variant A/G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1419894030
rs1419894030 		1.000 0.040 6 151944332 missense variant C/G snv 4.0E-06
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017