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 1 (disorder)
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
65 0.925 0.120 11 66523577 splice donor variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 2 2003 2012
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.925 0.120 11 66523577 splice donor variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 1 2019 2019