rs775144154, SLC19A1

N. diseases: 38
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2014 2015
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2014 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2014 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2014 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1 2014 2014
Esophagitis
CUI: C0014868
Disease: Esophagitis
7 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2014 2014
Stomatitis
CUI: C0038362
Disease: Stomatitis
22 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2014 2014
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
125 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2015 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2015 2015
5,10-Methylenetetrahydrofolate reductase deficiency
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
6 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2017 2017
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2018 2018
Conotruncal defect
CUI: C1853238
Disease: Conotruncal defect
45 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2018 2018
Deformity
CUI: C0302142
Disease: Deformity
26 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2018 2018