PPARGC1A, PPARG coactivator 1 alpha, 10891

N. diseases: 350; N. variants: 42
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: rs73243607
rs73243607 		4 23757039 intron variant C/T snv 3.6E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs7667050
rs7667050 		4 23811486 intron variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs7679405
rs7679405 		4 24098994 intergenic variant C/T snv 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 0.879 33 2001 2020
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.100 1.000 14 2003 2015
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.080 0.875 8 2003 2018
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.060 0.833 6 2004 2018
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.050 0.800 5 2004 2018
dbSNP: rs2970847
rs2970847 		0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 1.000 4 2007 2018
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.040 0.750 4 2005 2020
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.030 1.000 3 2013 2017
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2008 2016
dbSNP: rs3736265
rs3736265 		0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs6821591
rs6821591 		1.000 0.040 4 23795377 3 prime UTR variant C/T snv 0.53
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2011 2018
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 0.500 2 2004 2014
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.020 1.000 2 2006 2018
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.020 1.000 2 2004 2005
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 0.500 2 2011 2018
dbSNP: rs8192678
rs8192678 		0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2007 2017
dbSNP: rs10212638
rs10212638 		1.000 0.080 4 23864492 intron variant A/G snv 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10517030
rs10517030 		0.925 0.120 4 23961283 intergenic variant A/C snv 6.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10517032
rs10517032 		0.925 0.120 4 23966759 regulatory region variant C/A snv 5.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17574213
rs17574213 		1.000 0.080 4 23814058 synonymous variant G/A snv 4.9E-02 5.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200187877
rs200187877 		0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2009 2009