GSTM1, glutathione S-transferase mu 1, 2944

N. diseases: 627; N. variants: 9
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: rs1065411
rs1065411 		0.925 0.080 1 109690516 missense variant G/A;C;T snv 0.36; 6.9E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1065411
rs1065411 		0.925 0.080 1 109690516 missense variant G/A;C;T snv 0.36; 6.9E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs1192077068
rs1192077068 		1.000 0.160 1 109687896 stop gained G/A snv 1.5E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1344469579
rs1344469579 		1 109688179 missense variant G/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1484761909
rs1484761909 		0.882 0.120 1 109688224 missense variant A/G snv 3.0E-05 3.8E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1484761909
rs1484761909 		0.882 0.120 1 109688224 missense variant A/G snv 3.0E-05 3.8E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1484761909
rs1484761909 		0.882 0.120 1 109688224 missense variant A/G snv 3.0E-05 3.8E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
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: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0003949
Disease: Asbestosis
Asbestosis 		Respiratory Tract Diseases; Occupational Diseases 0.010 1.000 1 2008 2008
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: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs536289169
rs536289169 		0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019
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: rs753904217
rs753904217 		1.000 0.080 1 109690557 missense variant G/A snv 1.9E-04 6.6E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2010 2010
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2010 2010
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: 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: 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