Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs773223321
MMRN1
4 89935190 missense variant G/A snv 1.6E-05 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs774038422
ERG
1.000 0.080 21 38391009 missense variant C/T snv 4.0E-06 7.0E-06 2
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 7
rs121918284
BEST1 ; LOC107984334
0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 5
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 10
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs1800553
ABCA4
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 17
rs12155400
HDAC9
7 18389298 intron variant A/G snv 2.9E-02 2
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1249719
COL27A1
1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 2
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs3751624
MYO5C
1.000 0.120 15 52282973 intron variant C/T snv 0.20 2
rs735286
VEGFA
6 43776884 non coding transcript exon variant C/T snv 0.23 1
rs74421874
PSMD9
0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 14
rs7493
PON2
0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 24
rs2146323
VEGFA
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 13
rs1800592 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 8