rs387906749, NOTCH2

N. diseases: 1
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 119915557 stop gained G/A snv 0.700 0