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.
MECKEL SYNDROME, TYPE 10
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
4 0.925 0.320 19 41354927 missense variant T/G snv 8.2E-06 0.700 0
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.925 0.320 19 41354927 missense variant T/G snv 8.2E-06 0.010 1 2011 2011