rs1559094754, MBD5

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.
Mental Retardation, Autosomal Dominant 1
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
19 1.000 0.160 2 148483177 frameshift variant ATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTT/- del 0.700 0