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: 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: 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: 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: 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: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 1.000 3 2009 2012
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2011 2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
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 		0.030 1.000 3 2011 2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 1.000 2 2013 2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
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
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2009 2012
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2014 2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
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 		0.010 1.000 1 2005 2005