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: rs200277476
rs200277476
BEST1 ; LOC107984334
0.925 0.080 11 61956946 missense variant C/T snv 2.6E-04 1.5E-04
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 1.000 5 2000 2017
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
0.925 0.080 11 61956946 missense variant C/T snv 2.6E-04 1.5E-04
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.720 1.000 2 2017 2019