rs1564191302, NOTCH1

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.
ADAMS-OLIVER SYNDROME 5
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
27 1.000 9 136505825 stop gained G/T snv 0.700 0