ESRRG, estrogen related receptor gamma, 2104

N. diseases: 75; N. variants: 22
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: rs10779271
rs10779271 		1 216659647 intron variant A/G snv 0.33
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs10863246
rs10863246 		1 216514743 intron variant G/A;C snv 0.28
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs11117615
rs11117615 		0.925 0.040 1 216551790 intron variant T/C snv 9.9E-03
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs11117615
rs11117615 		0.925 0.040 1 216551790 intron variant T/C snv 9.9E-03
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11117646
rs11117646 		1 216656786 intron variant T/A snv 0.17
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs11117758
rs11117758 		1.000 0.080 1 217047232 intron variant G/A snv 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12027943
rs12027943 		1 216520449 intron variant C/A;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs12755398
rs12755398 		1.000 0.040 1 216943804 intron variant G/A snv 0.12
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs12757165
rs12757165 		1 216543195 intron variant A/G snv 0.29
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12757165
rs12757165 		1 216543195 intron variant A/G snv 0.29
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12757183
rs12757183 		1 216747031 intron variant T/C snv 0.15
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1339221
rs1339221 		1.000 0.080 1 216999264 intron variant T/C snv 0.64
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs150859230
rs150859230 		1.000 1 216675108 intron variant C/T snv 1.4E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs17043393
rs17043393 		1 216698070 intron variant A/G snv 0.13
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs17043393
rs17043393 		1 216698070 intron variant A/G snv 0.13
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs17669622
rs17669622 		1 216583479 intron variant G/A snv 0.18
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2013 2013
dbSNP: rs17669622
rs17669622 		1 216583479 intron variant G/A snv 0.18
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2013 2013
dbSNP: rs1953522
rs1953522 		1 216663899 intron variant A/C;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2576221
rs2576221 		0.925 0.040 1 216960347 intron variant C/T snv 0.52
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2576221
rs2576221 		0.925 0.040 1 216960347 intron variant C/T snv 0.52
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2818766
rs2818766 		0.925 0.040 1 216993402 intron variant T/C snv 0.86
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2818766
rs2818766 		0.925 0.040 1 216993402 intron variant T/C snv 0.86
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs72737330
rs72737330 		0.925 0.080 1 216600151 intron variant T/C snv 0.15
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs72737330
rs72737330 		0.925 0.080 1 216600151 intron variant T/C snv 0.15
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs72737330
rs72737330 		0.925 0.080 1 216600151 intron variant T/C snv 0.15
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		Chemically-Induced Disorders 0.700 1.000 1 2017 2017