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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.925 0.160 16 27749634 stop gained C/T snv 0.700 1.000 1 2015 2015
JOUBERT SYNDROME 26
CUI: C4084843
Disease: JOUBERT SYNDROME 26
2 0.925 0.160 16 27749634 stop gained C/T snv 0.700 0