Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 28
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv 22
rs11558538
LOC107985948 ; HNMT
0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 19
rs10434
VEGFA
0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 17
rs2976392
JRK ; PSCA
0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 15
rs9297976
JRK ; PSCA
0.790 0.160 8 142670817 intron variant T/C;G snv 7
rs2976391
PSCA ; JRK
0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 7
rs138377917
PSCA
0.827 0.160 8 142682113 stop gained G/A snv 2.1E-02 2.2E-02 5
rs12155758 0.882 0.080 8 142684467 upstream gene variant G/A snv 0.23 3
rs7855466 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 3
rs9411471 1.000 0.040 9 133244704 intergenic variant G/A snv 0.27 2
rs9919007 1.000 0.040 9 133244140 intergenic variant C/T snv 0.27 2
rs2920283
JRK ; PSCA
0.925 0.040 8 142675619 intron variant T/C snv 0.44 2
rs10105842 1.000 0.040 8 142590254 intergenic variant C/T snv 0.15 1
rs1036385 1.000 0.040 8 142761483 upstream gene variant T/C;G snv 1
rs28473387 1.000 0.040 8 142626112 intergenic variant T/C snv 0.63 1
rs7046863 1.000 0.040 9 133246054 downstream gene variant T/C snv 0.27 1
rs9324593 1.000 0.040 8 142605634 intergenic variant A/G snv 0.18 1
rs16896391
EYS
1.000 0.040 6 65196105 intron variant T/C snv 0.23 1
rs7775478
EYS
1.000 0.040 6 65151300 intron variant G/T snv 0.26 1