rs368352689, ACTB

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 7 5527786 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 1999 1999