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: rs17590046
rs17590046 		1.000 0.040 4 24360918 intergenic variant T/C snv 0.18
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.730 0.667 3 2016 2018
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: rs10020457
rs10020457 		1.000 0.040 4 23961338 intergenic variant G/A snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 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: rs10517030
rs10517030 		0.925 0.120 4 23961283 intergenic variant A/C snv 6.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10517031
rs10517031 		1.000 0.040 4 23966672 regulatory region variant A/G snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10517032
rs10517032 		0.925 0.120 4 23966759 regulatory region variant C/A snv 5.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 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: 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: rs12501032
rs12501032 		0.925 0.120 4 23949395 regulatory region variant C/G snv 0.20
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs12501032
rs12501032 		0.925 0.120 4 23949395 regulatory region variant C/G snv 0.20
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12501032
rs12501032 		0.925 0.120 4 23949395 regulatory region variant C/G snv 0.20
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12650199
rs12650199 		4 24112424 intergenic variant A/G snv 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs16874420
rs16874420 		1.000 0.040 4 23968416 intergenic variant C/G snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs188794202
rs188794202 		1.000 0.040 4 23848945 intron variant C/T snv 5.8E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2015 2015
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: rs2324237
rs2324237 		1.000 0.040 4 23964419 intergenic variant A/G snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2324241
rs2324241 		1.000 0.040 4 23953895 intergenic variant A/C snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs2970855
rs2970855 		4 23825622 intron variant A/T snv 0.63
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
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