Disease: Reticular pseudodrusen
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
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs10490924
ARMS2 ; LOC105378525
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 16
rs11200638
LOC105378525 ; HTRA1
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 14
rs2230199
C3
0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 10
rs943080
LOC107986598
0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 6
rs114254831
PBX2
0.827 0.040 6 32187804 intron variant A/G snv 5
rs116503776
CYP21A2 ; SKIV2L
0.827 0.040 6 31962685 intron variant G/A snv 5