rs1215380342, SLC19A1

N. diseases: 2
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 0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013