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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2009 2012
dbSNP: rs11873890
rs11873890 		18 662135 intron variant A/G snv 8.2E-03 3.2E-02
CUI: C0392885
Disease: High density lipoprotein measurement
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
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
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
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs750248338
rs750248338 		0.925 0.080 18 670857 missense variant C/T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: rs2847149
rs2847149 		1.000 0.080 18 666371 intron variant G/A snv 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: rs502396
rs502396 		1.000 0.080 18 659236 intron variant C/T snv 0.46
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: rs502396
rs502396 		1.000 0.080 18 659236 intron variant C/T snv 0.46
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs699517
rs699517 		18 673016 3 prime UTR variant C/T snv 0.38 0.40
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2606241
rs2606241 		1.000 0.080 18 657443 intron variant A/C snv 0.66
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2853741
rs2853741 		1.000 0.080 18 657352 intron variant T/C;G snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs2853533
rs2853533 		1.000 0.080 18 658064 non coding transcript exon variant G/C snv 0.22 0.22
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs34743033
rs34743033 		0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013