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: rs762398929
rs762398929
FTH1 ; BEST1
0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.010 1.000 1 2019 2019
dbSNP: rs762398929
rs762398929
FTH1 ; BEST1
0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2019 2019