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.
HYPEREKPLEXIA 1
CUI: C4551954
Disease: HYPEREKPLEXIA 1
23 1.000 0.120 5 151859984 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.800 1.000 14 1993 2015