Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940273
rs28940273
BEST1 ; LOC107984334
0.925 0.080 11 61955749 stop gained G/A;C snv
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.810 1.000 19 1998 2017
dbSNP: rs28940273
rs28940273
BEST1 ; LOC107984334
0.925 0.080 11 61955749 stop gained G/A;C snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2017 2017