rs747388658, BBS9

N. diseases: 1
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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 1.000 0.120 7 33155682 frameshift variant TT/-;T delins 7.3E-05; 8.1E-06 0.700 0