rs730882229, PTPN23

N. diseases: 3
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 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0