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: rs944459
rs944459 		1.000 0.080 14 64232640 3 prime UTR variant C/T snv 1.1E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs944050
rs944050 		0.827 0.280 14 64233327 splice region variant T/C snv 9.5E-02 7.9E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs944050
rs944050 		0.827 0.280 14 64233327 splice region variant T/C snv 9.5E-02 7.9E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs944050
rs944050 		0.827 0.280 14 64233327 splice region variant T/C snv 9.5E-02 7.9E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs944050
rs944050 		0.827 0.280 14 64233327 splice region variant T/C snv 9.5E-02 7.9E-02
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		Nervous System Diseases; Mental Disorders; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs944050
rs944050 		0.827 0.280 14 64233327 splice region variant T/C snv 9.5E-02 7.9E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs944045
rs944045 		1.000 0.080 14 64234728 3 prime UTR variant T/C snv 0.17
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs928554
rs928554 		0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs928554
rs928554 		0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs928554
rs928554 		0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs928554
rs928554 		0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs928554
rs928554 		0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs928554
rs928554 		0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs915057
rs915057 		1.000 0.040 14 64219489 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs8021944
rs8021944 		14 64212580 intron variant T/G snv 5.6E-02
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs8018687
rs8018687 		0.925 0.080 14 64227364 3 prime UTR variant T/C snv 0.17
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs8018687
rs8018687 		0.925 0.080 14 64227364 3 prime UTR variant T/C snv 0.17
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs763585589
rs763585589 		1.000 0.040 14 64219304 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs758858068
rs758858068 		1.000 0.040 14 64225321 missense variant T/A;C;G snv 3.2E-05; 4.0E-06
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs751676149
rs751676149 		1.000 0.040 14 64233228 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs745516407
rs745516407 		1.000 14 64107608 splice donor variant G/A;T snv 4.0E-06 7.0E-06
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs7159462
rs7159462 		1.000 0.040 14 64292158 intron variant C/T snv 5.9E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7154455
rs7154455 		0.925 0.080 14 64269942 intron variant G/A;C snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7154455
rs7154455 		0.925 0.080 14 64269942 intron variant G/A;C snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7146434
rs7146434 		1.000 0.040 14 64259785 intron variant A/G snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019