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: rs11873890
rs11873890
18 662135 intron variant A/G snv 8.2E-03 3.2E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs11873890
rs11873890
18 662135 intron variant A/G snv 8.2E-03 3.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs11873890
rs11873890
18 662135 intron variant A/G snv 8.2E-03 3.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs11873890
rs11873890
18 662135 intron variant A/G snv 8.2E-03 3.2E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2847153
rs2847153
0.925 0.080 18 661647 intron variant G/A snv 0.22
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2012 2012
dbSNP: rs3891167
rs3891167
18 658423 non coding transcript exon variant A/G snv 0.26
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs66567989
rs66567989
18 660442 intron variant A/- del 0.11
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2016 2016
dbSNP: rs66567989
rs66567989
18 660442 intron variant A/- del 0.11
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2016 2016
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: rs1059394
rs1059394
0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.020 1.000 2 2019 2019
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: rs2847153
rs2847153
0.925 0.080 18 661647 intron variant G/A snv 0.22
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.020 1.000 2 2019 2019
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: rs1001761
rs1001761
1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55
CUI: C0037284
Disease: Skin lesion
Skin lesion
Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1001761
rs1001761
1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1059394
rs1059394
0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue 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: 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