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: 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: rs115929572
rs115929572 		1 109703431 intron variant G/A;T snv 5.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2008 2008
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: rs768623239
rs768623239 		0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 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: 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: 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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		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: 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: rs638820
rs638820 		0.827 0.160 1 109667284 intron variant G/A snv 0.52
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs638820
rs638820 		0.827 0.160 1 109667284 intron variant G/A snv 0.52
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs638820
rs638820 		0.827 0.160 1 109667284 intron variant G/A snv 0.52
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 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: 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