rs750506474, 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 56514557 missense variant C/A snv 8.0E-06 7.0E-06 0.700 1.000 8 2001 2011