rs113994189, BBS4

N. diseases: 2
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 0.925 0.120 15 72709480 intron variant A/- delins 0.700 0
Bardet-Biedl syndrome 4 (disorder)
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
9 0.925 0.120 15 72709480 intron variant A/- delins 0.700 0