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.
BARDET-BIEDL SYNDROME 13
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
24 0.882 0.320 17 58219149 splice donor variant A/G snv 0.700 1.000 1 2006 2006
JOUBERT SYNDROME 28
CUI: C4310705
Disease: JOUBERT SYNDROME 28
24 0.882 0.320 17 58219149 splice donor variant A/G snv 0.700 1.000 1 2006 2006
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.882 0.320 17 58219149 splice donor variant A/G snv 0.700 1.000 1 2006 2006