ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
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: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.500 4 2005 2018
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.500 4 2005 2018
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2012 2015
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2012 2015
dbSNP: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2009 2018
dbSNP: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2009 2018
dbSNP: rs4986938
rs4986938 		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 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2005 2014
dbSNP: rs4986938
rs4986938 		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 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2009 2015
dbSNP: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2005 2014
dbSNP: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2009 2015
dbSNP: rs1152591
rs1152591 		1.000 0.080 14 64214130 intron variant A/C;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 2 2012 2017
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.020 1.000 2 2009 2014
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.020 1.000 2 2012 2014
dbSNP: rs1256061
rs1256061 		14 64236875 intron variant G/A;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs1256120
rs1256120 		0.882 0.200 14 64338283 non coding transcript exon variant A/G snv 0.20
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2007 2008
dbSNP: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2009 2011
dbSNP: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2018
dbSNP: rs2738413
rs2738413 		1.000 0.080 14 64213242 intron variant A/G snv 0.63
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 < 0.001 2 2014 2019
dbSNP: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 < 0.001 2 2014 2019
dbSNP: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		Nervous System Diseases; Mental Disorders; Cardiovascular Diseases 0.020 1.000 2 2009 2012