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: rs41359445
rs41359445 		1.000 0.040 4 23792721 3 prime UTR variant A/T snv 1.3E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs3774923
rs3774923 		1.000 0.040 4 23793441 3 prime UTR variant C/T snv 5.2E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2013 2013
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: rs6821591
rs6821591 		1.000 0.040 4 23795377 3 prime UTR variant C/T snv 0.53
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		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
dbSNP: rs200187877
rs200187877 		0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs200187877
rs200187877 		0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs200187877
rs200187877 		0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs3774921
rs3774921 		0.925 0.080 4 23809024 intron variant C/T snv 0.55
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs3774921
rs3774921 		0.925 0.080 4 23809024 intron variant C/T snv 0.55
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
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: 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: rs3736265
rs3736265 		0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3736265
rs3736265 		0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3736265
rs3736265 		0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3736265
rs3736265 		0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3736265
rs3736265 		0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs3736265
rs3736265 		0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 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: 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