SLC19A2, solute carrier family 19 member 2, 10560

N. diseases: 70; N. variants: 15
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: rs28937595
rs28937595 		1.000 0.240 1 169477447 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.810 1.000 7 1999 2009
dbSNP: rs761957186
rs761957186 		1.000 0.240 1 169477534 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 1999 2000
dbSNP: rs1983546
rs1983546 		1 169476945 intron variant A/G snv 0.47
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 2 2014 2019
dbSNP: rs2038024
rs2038024 		1.000 0.080 1 169486744 non coding transcript exon variant C/A snv 0.88
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2038024
rs2038024 		1.000 0.080 1 169486744 non coding transcript exon variant C/A snv 0.88
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2678166
rs2678166 		1 169465789 3 prime UTR variant C/A;T snv
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2901092
rs2901092 		1 169487155 non coding transcript exon variant A/G snv 4.7E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs121908540
rs121908540 		1.000 0.240 1 169485615 missense variant G/A snv 7.0E-06
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1234256852
rs1234256852 		1.000 0.240 1 169477153 splice donor variant A/C snv 4.0E-06
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553211899
rs1553211899 		1.000 0.240 1 169468785 stop gained C/T snv
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1557894839
rs1557894839 		1.000 0.240 1 169485697 frameshift variant GAGCGGT/- del
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs74315373
rs74315373 		1.000 0.240 1 169477478 stop gained G/A snv 4.0E-06
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs74315374
rs74315374 		1.000 0.240 1 169477212 stop gained C/G;T snv 2.8E-05; 4.0E-06
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs74315375
rs74315375 		1.000 0.240 1 169468793 stop gained C/T snv
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs763099442
rs763099442 		1.000 0.240 1 169477377 frameshift variant AA/- del 4.0E-06
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs200879349
rs200879349 		0.925 0.240 1 169468804 missense variant T/G snv 5.2E-05 6.3E-05
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200879349
rs200879349 		0.925 0.240 1 169468804 missense variant T/G snv 5.2E-05 6.3E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200879349
rs200879349 		0.925 0.240 1 169468804 missense variant T/G snv 5.2E-05 6.3E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019