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: 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: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3020450
rs3020450 		0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1256120
rs1256120 		0.882 0.200 14 64338283 non coding transcript exon variant A/G snv 0.20
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
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: 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: rs1256059
rs1256059 		1.000 0.080 14 64243699 intron variant A/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs17766755
rs17766755 		1.000 0.080 14 64249055 intron variant G/A snv 0.31
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2274705
rs2274705 		1.000 0.080 14 64249911 intron variant A/C snv 0.18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs4365213
rs4365213 		1.000 0.080 14 64253546 intron variant T/C 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: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
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: 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: rs1298806501
rs1298806501 		1.000 0.040 14 64227600 missense variant G/A snv 4.0E-06
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1256049
rs1256049 		0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
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: 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: 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: rs4986938
rs4986938 		0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2772163
rs2772163 		14 64226667 intron variant G/A snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: 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: rs1256054
rs1256054 		0.882 0.120 14 64249595 synonymous variant G/C snv 2.8E-03 9.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1271572
rs1271572 		0.708 0.400 14 64295199 intron variant A/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013