rs771748290, CBS

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.
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 0.050 1.000 5 2005 2017
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 0.040 1.000 4 2010 2017
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 0.020 1.000 2 2010 2013