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
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 37
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs560887
SPC25 ; G6PC2
0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 18
rs715
CPS1
1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 13
rs1744297
ASPG
14 104102135 intron variant T/C snv 0.86 12
rs2079742
BCAS3
0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 9
rs2657879
GLS2 ; SPRYD4
1.000 0.080 12 56471554 missense variant A/G snv 0.17 0.15 9
rs2238732
PRODH
22 18927834 intron variant C/G;T snv 7
rs12613336 2 210704675 regulatory region variant T/C snv 0.19 6
rs2731672
GRK6
5 177415473 intron variant T/C snv 0.66 6
rs2169387
LOC157273
8 9323885 intron variant A/G snv 0.87 6
rs77303550
TXNL4B
16 72045758 intron variant C/T snv 0.19 6
rs3733402
KLKB1
1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 5
rs17450273 12 102967601 intergenic variant C/A;T snv 4
rs10211524
LOC107984063 ; LINC02245
2 64980940 intron variant G/A snv 0.51 4
rs477992
PHGDH
1 119714953 intron variant A/G snv 0.69 4
rs1440581
PPM1K-DT
1.000 0.080 4 88305270 intron variant T/A;C snv 4
rs774211
RBMS2
12 56527155 intron variant T/C snv 0.12 4
rs13244654
SUMF2
7 56079263 intron variant T/C snv 0.48 4
rs10466351 11 92964815 upstream gene variant C/T snv 0.48 3
rs2040771 22 19174422 downstream gene variant C/A;T snv 3
rs878521 7 44216044 downstream gene variant G/A snv 0.33 3
rs62149891
CCT4
2 61877999 intron variant A/G snv 1.0E-01 3
rs816411
CHCHD2
1.000 0.040 7 56103796 intron variant C/T snv 0.53 3