rs121908180, BBS2

N. diseases: 3
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 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 1.000 1 2010 2010
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 1.000 1 2019 2019
BARDET-BIEDL SYNDROME 2/6, DIGENIC
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
5 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 0