Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs780093
GCKR
0.763 0.240 2 27519736 intron variant T/C snv 0.68 30
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 24
rs1728918 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 19
rs715
CPS1
1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 13
rs6058093
PIGU
0.776 0.080 20 34625392 intron variant A/C snv 0.55 12
rs2279238
NR1H3
0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26 11
rs12917707
UMOD
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 11
rs9895661
BCAS3
0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 10
rs10857147 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 9
rs17050272
LOC105373585
0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 9
rs9472135
LOC107986598
0.925 0.120 6 43842065 intron variant T/A;C;G snv 9
rs62435145 1.000 0.040 7 1246931 regulatory region variant G/T snv 0.51 8
rs963837
LOC101928338 ; LINC02859
0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 8
rs267734 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 7
rs4014195 0.882 0.200 11 65739351 intergenic variant C/G snv 0.31 7
rs3741414
INHBC
0.925 0.120 12 57450266 3 prime UTR variant C/T snv 0.19 7
rs3925584
LOC101928338
1.000 0.080 11 30738788 intergenic variant T/C snv 0.35 7
rs881858
LOC105375069 ; LOC107986598
0.882 0.200 6 43838872 intron variant G/A;C snv 7
rs77924615
PDILT
1.000 0.080 16 20381010 intron variant G/A snv 0.16 7
rs1106766
R3HDM2
0.882 0.120 12 57415673 intron variant C/T snv 0.19 7
rs1394125
UBE2Q2
0.882 0.200 15 75866642 intron variant G/A;T snv 7
rs1533988 7 1253374 intergenic variant A/T snv 0.59 6
rs17216707 20 54115823 intergenic variant T/C snv 0.17 6