rs587777734, NOTCH1

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.
ADAMS-OLIVER SYNDROME 5
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
27 0.925 0.120 9 136499229 missense variant C/T snv 0.800 1.000 1 2014 2014
Adams-Oliver syndrome 1
CUI: C4551482
Disease: Adams-Oliver syndrome 1
9 0.925 0.120 9 136499229 missense variant C/T snv 0.010 1.000 1 2014 2014