rs1238632042, 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 169492899 missense variant C/T snv 4.0E-06 2.1E-05 0.700 0