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
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 29
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 25
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
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
rs1129038
HERC2
0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 8
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs1393350
LOC107984363 ; TYR
0.851 0.160 11 89277878 intron variant G/A snv 0.17 7
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
rs251464
PPARGC1B
0.851 0.080 5 149816671 intron variant G/C snv 0.36 5
rs56238684
PIGU
0.882 0.080 20 34648892 intron variant G/C snv 4.2E-02 4
rs4785752 1.000 0.040 16 89968733 upstream gene variant A/G snv 0.42 2
rs4911466 20 35102207 intergenic variant C/A;G;T snv 2
rs77733403
DBNDD1
16 90014315 intron variant T/C snv 0.24 2
rs1667392
HERC2
15 28288419 intron variant G/A;C;T snv 2
rs1885120
LOC107985393 ; MIR499A ; MYH7B
1.000 0.040 20 34989186 intron variant C/G snv 0.96 2
rs72932540
LOC338694 ; SMIM38
1.000 0.080 11 69154575 intron variant A/G snv 1.8E-03 2
rs1204552
NORAD
1.000 0.040 20 36050981 non coding transcript exon variant T/A;C;G snv 2
rs72917317
TPCN2
11 69049973 intron variant T/G snv 9.0E-02 2
rs10810650 9 16873553 upstream gene variant C/T snv 0.43 1
rs112043138 20 35763696 regulatory region variant T/A snv 6.0E-02 1
rs114143322 1 197483784 intergenic variant G/A snv 6.6E-03 1