rs142569954, EDNRB

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 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.020 1.000 2 2003 2007
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.010 1.000 1 2003 2003
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.010 1.000 1 2003 2003