rs1051266, SLC19A1

N. diseases: 41
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.
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.070 0.857 7 2008 2013
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.070 0.857 7 2008 2013
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.060 0.833 6 2003 2018
Attention deficit hyperactivity disorder
420 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.030 1.000 3 2014 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.020 1.000 2 2014 2014
Meningomyelocele
CUI: C0025312
Disease: Meningomyelocele
27 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.020 0.500 2 2015 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.020 1.000 2 2017 2019
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2014 2014
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
Cerebral Infarction
CUI: C0007785
Disease: Cerebral Infarction
123 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
Childhood Acute Lymphoblastic Leukemia
261 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2013 2013
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2001 2001
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
43 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2019 2019
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2014 2014
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
13 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1 2005 2005
Conotruncal defect
CUI: C1853238
Disease: Conotruncal defect
45 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2012 2012
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2010 2010
Dementia, Vascular
CUI: C0011269
Disease: Dementia, Vascular
32 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2014 2014
Fever
CUI: C0015967
Disease: Fever
66 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2014 2014
Inattention
CUI: C0424101
Disease: Inattention
22 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017