TYMS, thymidylate synthetase, 7298

N. diseases: 406; N. variants: 19
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: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2011 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2011 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2009 2012
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
Childhood Acute Lymphoblastic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2012
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.020 1.000 2 2009 2012
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.020 1.000 2 2013 2015
dbSNP: rs34743033
rs34743033
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0038362
Disease: Stomatitis
Stomatitis
Stomatognathic Diseases 0.020 0.500 2 2013 2018
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs151264360
rs151264360
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis
Stomatognathic Diseases 0.010 < 0.001 1 2018 2018