rs1553193507, NOTCH2

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.
Hajdu-Cheney Syndrome
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
13 1.000 0.080 1 119915869 stop gained G/A snv 0.700 1.000 1 2011 2011
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 1.000 0.080 1 119915869 stop gained G/A snv 0.700 0