rs769364943, ASPM

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.
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
30 1.000 0.240 1 197101927 stop gained G/A;C snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018