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: 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: 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
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
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: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2015 2015
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia 		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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2013 2013
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood 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: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.010 < 0.001 1 2015 2015
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: 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: 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