Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs699517
rs699517
TYMS ; ENOSF1
18 673016 3 prime UTR variant C/T snv 0.38 0.40
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2012 2012
dbSNP: rs151264360
rs151264360
TYMS ; ENOSF1
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0038362
Disease: Stomatitis
Stomatitis 		0.010 < 0.001 1 2018 2018
dbSNP: rs151264360
rs151264360
TYMS ; ENOSF1
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		0.010 < 0.001 1 2018 2018
dbSNP: rs151264360
rs151264360
TYMS ; ENOSF1
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 1.000 1 2018 2018
dbSNP: rs1059394
rs1059394
TYMS ; ENOSF1
0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C0017638
Disease: Glioma
Glioma 		0.020 1.000 2 2019 2019
dbSNP: rs2847153
rs2847153
TYMS
0.925 0.080 18 661647 intron variant G/A snv 0.22
CUI: C0017638
Disease: Glioma
Glioma 		0.020 1.000 2 2019 2019
dbSNP: rs1001761
rs1001761
TYMS
1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.010 1.000 1 2018 2018
dbSNP: rs1001761
rs1001761
TYMS
1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2009 2009
dbSNP: rs1059394
rs1059394
TYMS ; ENOSF1
0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2606241
rs2606241
TYMS ; TYMSOS
1.000 0.080 18 657443 intron variant A/C snv 0.66
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.010 1.000 1 2019 2019
dbSNP: rs2847149
rs2847149
TYMS
1.000 0.080 18 666371 intron variant G/A snv 0.55
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2009 2009
dbSNP: rs2847153
rs2847153
TYMS
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 		0.010 1.000 1 2015 2015
dbSNP: rs2853533
rs2853533
TYMS ; TYMSOS
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 		0.010 1.000 1 2013 2013
dbSNP: rs2853741
rs2853741
TYMS ; TYMSOS
1.000 0.080 18 657352 intron variant T/C;G snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.010 1.000 1 2019 2019
dbSNP: rs502396
rs502396
TYMS ; TYMSOS
1.000 0.080 18 659236 intron variant C/T snv 0.46
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2012 2012
dbSNP: rs502396
rs502396
TYMS ; TYMSOS
1.000 0.080 18 659236 intron variant C/T snv 0.46
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2009 2009
dbSNP: rs750248338
rs750248338
TYMS ; ENOSF1
0.925 0.080 18 670857 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs750248338
rs750248338
TYMS ; ENOSF1
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: rs9967368
rs9967368
TYMS ; TYMSOS
1.000 0.080 18 656020 intron variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2853542
rs2853542
TYMS ; TYMSOS
1.000 0.120 18 657685 5 prime UTR variant G/C;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs2790
rs2790
TYMS ; ENOSF1
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 		0.010 1.000 1 2018 2018
dbSNP: rs2790
rs2790
TYMS ; ENOSF1
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 		0.010 1.000 1 2015 2015
dbSNP: rs34743033
rs34743033
TYMS ; TYMSOS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0038362
Disease: Stomatitis
Stomatitis 		0.020 0.500 2 2013 2018
dbSNP: rs34743033
rs34743033
TYMS ; TYMSOS
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 		0.010 1.000 1 2017 2017
dbSNP: rs34743033
rs34743033
TYMS ; TYMSOS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2015 2015