Source: ALL

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: rs66567989
rs66567989
TYMS
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
TYMS
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: 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: rs11873890
rs11873890
TYMS
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
TYMS
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
TYMS
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
TYMS
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: rs3891167
rs3891167
TYMS ; TYMSOS
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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