rs137853921, BBS5

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.
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 1.000 0.040 2 169493769 missense variant A/G snv 4.2E-03 3.7E-03 0.700 1.000 1 2004 2004