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: 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: 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: 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: 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
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: 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: 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
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: 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
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 1.000 1 2008 2008
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: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
Pathological Conditions, Signs and Symptoms; 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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
Childhood Acute Lymphoblastic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
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