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: 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
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: 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: rs2970847
rs2970847 		0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2970847
rs2970847 		0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2970848
rs2970848 		1.000 0.040 4 23815404 intron variant A/C;G snv 0.39
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2970870
rs2970870 		4 23891394 intron variant A/G snv 0.49
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2970870
rs2970870 		4 23891394 intron variant A/G snv 0.49
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 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: 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: 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