rs1057517007, BBS1

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 1 (disorder)
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
65 1.000 0.120 11 66514426 frameshift variant C/- delins 7.0E-06 0.700 0