Disease: Drusen
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs10490924
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 16
rs121913059
CFH
0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 16
rs11200638
LOC105378525 ; HTRA1
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 14
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 7
rs570618
CFH
0.827 0.040 1 196687934 intron variant T/G snv 0.69 6
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