rs1561793344, PURA

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 31
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
29 1.000 5 140114800 frameshift variant GACGACT/- del 0.700 0