rs387907112, NBEAL2

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.
Gray Platelet Syndrome
CUI: C0272302
Disease: Gray Platelet Syndrome
14 1.000 0.080 3 46997310 stop gained C/T snv 0.700 0