rs2506004, RET

N. diseases: 3
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.
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.882 0.160 10 43086825 intron variant A/C;T snv 0.050 1.000 5 2011 2015
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.882 0.160 10 43086825 intron variant A/C;T snv 0.010 1.000 1 2012 2012
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.882 0.160 10 43086825 intron variant A/C;T snv 0.010 1.000 1 2012 2012