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: 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: 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: 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: 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
dbSNP: rs151264360
rs151264360
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs151264360
rs151264360
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0038362
Disease: Stomatitis
Stomatitis
Stomatognathic Diseases 0.010 < 0.001 1 2018 2018
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: rs2790
rs2790
0.925 0.160 18 673086 3 prime UTR variant A/G;T snv 0.22
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2790
rs2790
0.925 0.160 18 673086 3 prime UTR variant A/G;T snv 0.22
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
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: 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: rs2847153
rs2847153
0.925 0.080 18 661647 intron variant G/A snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2853542
rs2853542
1.000 0.120 18 657685 5 prime UTR variant G/C;T snv
Childhood Acute Lymphoblastic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
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: rs34743033
rs34743033
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
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
dbSNP: rs34743033
rs34743033
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs34743033
rs34743033
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis
Stomatognathic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs34743033
rs34743033
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs34743033
rs34743033
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0023530
Disease: Leukopenia
Leukopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs34743033
rs34743033
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
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: 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