rs147293860, PTPN23

N. diseases: 2
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.
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.925 0.040 3 47409268 missense variant A/C;G snv 4.0E-06; 8.0E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 3 47409268 missense variant A/C;G snv 4.0E-06; 8.0E-05 0.700 0