Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 25
rs1805008
MC1R
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 16
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 16
rs12913832
HERC2
0.763 0.200 15 28120472 intron variant A/G snv 0.50 15
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
rs864745
JAZF1
0.763 0.320 7 28140937 intron variant T/C snv 0.41 12
rs1800407
OCA2
0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 10
rs6059655
RALY
0.790 0.080 20 34077942 intron variant A/G snv 0.95 10
rs17833789 0.807 0.080 17 57153267 intergenic variant C/A snv 0.37 8
rs1129038
HERC2
0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 8
rs1805005
MC1R
0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 8
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 8
rs9392504 0.827 0.120 6 412802 downstream gene variant G/A snv 0.44 7
rs1393350
LOC107984363 ; TYR
0.851 0.160 11 89277878 intron variant G/A snv 0.17 7
rs1042602
LOC107984363 ; TYR
0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 6
rs6782181
MRAS
0.851 0.160 3 138386212 intron variant G/A;C snv 6
rs4778138
OCA2
0.851 0.080 15 28090674 intron variant A/G;T snv 6
rs4911414 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 5
rs1667394
HERC2
15 28285036 intron variant C/A;T snv 5
rs916977
HERC2
1.000 0.080 15 28268218 intron variant T/C;G snv 5
rs121918166
OCA2
0.925 0.160 15 27985101 missense variant C/T snv 3.0E-03 3.4E-03 5
rs74653330
OCA2
0.851 0.200 15 27983407 missense variant C/T snv 8.4E-03 6.2E-03 5
rs6707137 0.882 0.040 2 88254832 regulatory region variant G/A snv 0.12 4
rs12931267
FANCA
1.000 0.040 16 89752324 intron variant C/G snv 4.7E-02 4