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: rs199529046
rs199529046
BEST1 ; LOC107984334
0.925 0.080 11 61956964 missense variant T/C;G snv 6.8E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 1.000 3 2000 2016
dbSNP: rs199529046
rs199529046
BEST1 ; LOC107984334
0.925 0.080 11 61956964 missense variant T/C;G snv 6.8E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.700 1.000 18 1998 2011