Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3783546
IL1A
0.882 0.160 2 112777253 intron variant G/C snv 0.70 5
rs3783550
IL1A
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 5
rs71428439
LOC100130449 ; MIR149 ; GPC1
0.827 0.200 2 240456083 non coding transcript exon variant A/G snv 0.11 0.13 5
rs1267580705
EPAS1
0.925 0.240 2 46360680 missense variant G/A snv 4
rs11894252
EPAS1
0.925 0.120 2 46306237 intron variant T/A;C;G snv 3
rs1609682
IL1A
0.882 0.160 2 112782628 intron variant G/T snv 0.70 3
rs34917480
EML6 ; RTN4
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 3
rs553863637
PLEK
0.925 0.120 2 68382602 missense variant G/A;C snv 4.8E-05 3
rs12617313
EPAS1
0.925 0.120 2 46332637 intron variant A/G;T snv 2
rs7579899
EPAS1
0.925 0.120 2 46310465 intron variant A/G snv 0.52 2
rs9679290
EPAS1
0.925 0.120 2 46330505 intron variant G/C snv 0.41 2
rs34048824
DNMT3A
1.000 0.120 2 25312674 intron variant T/C snv 0.42 1
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs266729
ADIPOQ
0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs182052
ADIPOQ
0.701 0.440 3 186842993 intron variant G/A snv 0.38 19
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 10
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv 8
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 8
rs1064794272
VHL
0.807 0.240 3 10146566 missense variant C/A snv 6
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6