rs281865207, BEST1

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.
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
120 1.000 0.080 11 61951835 missense variant C/T snv 0.700 1.000 18 1998 2011
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 1.000 0.080 11 61951835 missense variant C/T snv 0.010 1.000 1 2017 2017