SLC19A1, solute carrier family 19 member 1, 6573

N. diseases: 155; N. variants: 47
Disease: Down Syndrome ×
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: rs1051266
rs1051266 		0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.070 0.857 7 2008 2013
dbSNP: rs368087026
rs368087026 		0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.050 0.800 5 2005 2013
dbSNP: rs1359880314
rs1359880314 		0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 0.667 3 2006 2013
dbSNP: rs775144154
rs775144154 		0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2005 2007
dbSNP: rs1215380342
rs1215380342 		0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1445106099
rs1445106099 		0.925 0.120 21 45531596 missense variant C/T 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 2012 2012
dbSNP: rs199683090
rs199683090 		0.925 0.120 21 45531476 missense variant C/T snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012