GSTM2, glutathione S-transferase mu 2, 2946

N. diseases: 195; N. variants: 11
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: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2001 2013
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2001 2013
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2001 2013
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
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 2012 2014
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2003 2017
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2003 2017
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2017
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2017
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2017
dbSNP: rs4025935
rs4025935 		1.000 0.080 1 109686818 intron variant GT/- delins
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5776993
rs5776993 		1.000 0.080 1 109680280 intron variant AAAAAAAA/-;AA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017