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: rs10137185
rs10137185 		0.925 0.200 14 64309058 intron variant C/T 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: rs10137185
rs10137185 		0.925 0.200 14 64309058 intron variant C/T snv 0.17
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1152582
rs1152582 		1.000 0.040 14 64225912 3 prime UTR variant G/A;C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1217623435
rs1217623435 		14 64235099 missense variant A/C snv 4.0E-06
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12434245
rs12434245 		1.000 0.120 14 64225135 intron variant C/T snv 5.6E-02
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12435857
rs12435857 		0.925 0.200 14 64256807 intron variant G/A snv 0.41
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12435857
rs12435857 		0.925 0.200 14 64256807 intron variant G/A snv 0.41
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1255998
rs1255998 		0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv
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: rs1255998
rs1255998 		0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1255998
rs1255998 		0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs1255998
rs1255998 		0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1255998
rs1255998 		0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2010 2010
dbSNP: rs1255998
rs1255998 		0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1256030
rs1256030 		0.827 0.240 14 64280452 intron variant A/G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030 		0.827 0.240 14 64280452 intron variant A/G;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030 		0.827 0.240 14 64280452 intron variant A/G;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030 		0.827 0.240 14 64280452 intron variant A/G;T snv
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030 		0.827 0.240 14 64280452 intron variant A/G;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1256031
rs1256031 		0.790 0.200 14 64279461 intron variant G/A;T snv 0.57
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010