PPARGC1B, PPARG coactivator 1 beta, 133522

N. diseases: 102; N. variants: 16
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: rs109077
rs109077 		0.882 0.040 5 149817119 intron variant T/G snv 0.42
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs109077
rs109077 		0.882 0.040 5 149817119 intron variant T/G snv 0.42
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs109077
rs109077 		0.882 0.040 5 149817119 intron variant T/G snv 0.42
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs17110429
rs17110429 		5 149800331 intron variant A/C snv 3.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17110429
rs17110429 		5 149800331 intron variant A/C snv 3.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs251464
rs251464 		0.851 0.080 5 149816671 intron variant G/C snv 0.36
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs251464
rs251464 		0.851 0.080 5 149816671 intron variant G/C snv 0.36
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs251464
rs251464 		0.851 0.080 5 149816671 intron variant G/C snv 0.36
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs251464
rs251464 		0.851 0.080 5 149816671 intron variant G/C snv 0.36
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs251464
rs251464 		0.851 0.080 5 149816671 intron variant G/C snv 0.36
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs251468
rs251468 		1.000 0.040 5 149814922 intron variant C/T snv 0.33
CUI: C0025209
Disease: Melanosis
Melanosis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9285640
rs9285640 		5 149762504 intron variant G/A;C snv
CUI: C3547188
Disease: response to fenofibrate
response to fenofibrate 		0.700 1.000 1 2012 2012
dbSNP: rs7732671
rs7732671 		0.851 0.200 5 149832680 missense variant G/C snv 9.4E-02 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2006 2016
dbSNP: rs7732671
rs7732671 		0.851 0.200 5 149832680 missense variant G/C snv 9.4E-02 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2006 2016
dbSNP: rs1076064
rs1076064 		0.851 0.160 5 149732603 intron variant A/G snv 0.47
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs1076064
rs1076064 		0.851 0.160 5 149732603 intron variant A/G snv 0.47
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1076064
rs1076064 		0.851 0.160 5 149732603 intron variant A/G snv 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1076064
rs1076064 		0.851 0.160 5 149732603 intron variant A/G snv 0.47
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11959820
rs11959820 		1.000 0.080 5 149832947 missense variant C/A;G;T snv 5.1E-02; 8.0E-06; 2.8E-05
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 2006 2006
dbSNP: rs17572019
rs17572019 		0.882 0.160 5 149832908 missense variant G/A snv 8.5E-02 6.9E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs17572019
rs17572019 		0.882 0.160 5 149832908 missense variant G/A snv 8.5E-02 6.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs17572019
rs17572019 		0.882 0.160 5 149832908 missense variant G/A snv 8.5E-02 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: rs32582
rs32582 		1.000 0.080 5 149825854 intron variant C/A snv 0.22
CUI: C1858501
Disease: Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 12 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs45520937
rs45520937 		1.000 0.080 5 149832867 missense variant G/A snv 8.3E-02 4.7E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs62382272
rs62382272 		0.925 0.080 5 149731403 intron variant A/C snv 0.14
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018