Disease: Disorder of macula of retina
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs148060787
BEST1 ; FTH1
0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 5
rs1800995
BEST1 ; LOC107984334
0.851 0.080 11 61955906 missense variant GC/AA mnv 5
rs1805142
BEST1 ; LOC107984334
0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 5
rs281865275
LOC107984334 ; BEST1
0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 5