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: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
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
Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2009 2012
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
Childhood Acute Lymphoblastic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2012
dbSNP: rs1448674651
rs1448674651
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: rs1001761
rs1001761
1.000 0.080 18 662103 intron variant G/A snv 0.50 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: 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: 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: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1448674651
rs1448674651
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2011 2015
dbSNP: rs1448674651
rs1448674651
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
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2011 2015
dbSNP: rs11873890
rs11873890
18 662135 intron variant A/G snv 8.2E-03 3.2E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs11873890
rs11873890
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
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
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: 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: 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
dbSNP: rs699517
rs699517
18 673016 3 prime UTR variant C/T snv 0.38 0.40
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