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: 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: rs11730701
rs11730701 		1.000 0.040 4 24130930 intergenic variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs16874921
rs16874921 		4 24065360 intergenic variant G/A;C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2290602
rs2290602 		0.882 0.040 4 23824109 intron variant T/A;G snv
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2290602
rs2290602 		0.882 0.040 4 23824109 intron variant T/A;G snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2290602
rs2290602 		0.882 0.040 4 23824109 intron variant T/A;G snv
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 1.000 1 2008 2008
dbSNP: rs34751092
rs34751092 		1.000 0.040 4 24127414 intergenic variant G/A;C snv
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		Eye Diseases 0.700 1.000 1 2018 2018
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: rs60571065
rs60571065 		1.000 0.080 4 23875164 intron variant T/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs7656250
rs7656250 		1.000 0.080 4 23864393 intron variant C/A;T snv
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 2015 2015
dbSNP: rs7665116
rs7665116 		4 23851388 intron variant T/A;C snv
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		0.010 < 0.001 1 2012 2012
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: rs777169839
rs777169839 		4 23828453 missense variant T/C;G snv 2.4E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs777169839
rs777169839 		4 23828453 missense variant T/C;G snv 2.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs924038259
rs924038259 		0.925 0.080 4 23828541 missense variant G/C snv
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: rs924038259
rs924038259 		0.925 0.080 4 23828541 missense variant G/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
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