rs1555521379, BBS2

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 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
53 1.000 0.120 16 56496967 frameshift variant AT/- del 0.700 1.000 1 2005 2005