rs376894444, BBS1

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 1 (disorder)
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
65 0.925 0.120 11 66515586 missense variant G/A snv 2.8E-05 2.8E-05 0.800 1.000 13 2002 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.120 11 66515586 missense variant G/A snv 2.8E-05 2.8E-05 0.700 1.000 1 2005 2005