Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12155400
HDAC9
7 18389298 intron variant A/G snv 2.9E-02 2
rs1160535157
LAMP2
X 120449056 stop gained G/C snv 1
rs375090109
PRPH2
6 42722120 missense variant C/A;G snv 4.0E-06; 2.4E-05 1
rs735286
VEGFA
6 43776884 non coding transcript exon variant C/T snv 0.23 1
rs773223321
MMRN1
4 89935190 missense variant G/A snv 1.6E-05 1
rs104893768
RHO
0.807 0.080 3 129528801 missense variant C/A snv 11
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 11
rs768435443
ABCA4
0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 8
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 7
rs771676129
CD36
0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 7
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv 7
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 5
rs62638634
RPGR
0.925 0.080 X 38322921 missense variant C/A snv 4
rs763544450
ERG
1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 4
rs137853298
SYN3 ; TIMP3
0.925 0.080 22 32859351 missense variant A/T snv 3
rs774038422
ERG
1.000 0.080 21 38391009 missense variant C/T snv 4.0E-06 7.0E-06 2
rs1282382243
DLEU7-AS1 ; DLEU1 ; DLEU7
0.807 0.120 13 50843630 missense variant G/A snv 8
rs1057518955
ABCA4
1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 2
rs1249719
COL27A1
1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 2
rs3751624
MYO5C
1.000 0.120 15 52282973 intron variant C/T snv 0.20 2
rs281874657
COL4A5
0.925 0.160 X 108586717 stop gained C/T snv 3
rs281874727
COL4A5
1.000 0.160 X 108681837 stop gained C/T snv 2
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 15
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 10
rs1800592 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 8