Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs28601761 1.000 0.040 8 125487789 intron variant C/G snv 0.37 13
rs715
CPS1
1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 13
rs9987289
LOC157273
1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 10
rs12613336 2 210704675 regulatory region variant T/C snv 0.19 6
rs10184004 1.000 0.080 2 164651879 downstream gene variant C/T snv 0.48 5
rs2545801
GRK6
5 177414338 intron variant T/C snv 0.56 5
rs148685782
FGG
1.000 0.080 4 154611883 missense variant G/C snv 1.9E-03 2.2E-03 4
rs1912826
KLKB1
4 186228386 intron variant G/A;C snv 4
rs7012637 8 9315699 intron variant G/A;C snv 3
rs492488
ABO
9 133269548 intron variant A/C;G;T snv 3
rs8078686
KPNB1
17 47658340 intron variant T/C;G snv 0.49 3
rs478093
PHGDH ; LOC105378937
1.000 0.040 1 119712503 5 prime UTR variant A/G snv 0.73 3
rs10172053 2 210779923 intergenic variant T/C;G snv 2
rs1657863 2 210995002 intergenic variant T/G snv 0.52 2
rs4310999 2 210885574 intergenic variant G/A snv 0.21 2
rs4673546 2 210700968 intergenic variant C/T snv 0.15 2
rs6479877 10 63118358 intergenic variant C/A;G;T snv 2
rs651797 2 210992001 intergenic variant G/A snv 0.61 2
rs2276724
ALDH1L1
1.000 0.080 3 126135566 missense variant T/C snv 0.14 0.15 2
rs2364368
ALDH1L1 ; ALDH1L1-AS2
1.000 0.080 3 126186237 intron variant A/T snv 0.35 2
rs71640034
KLKB1
4 186239894 intron variant G/A;T snv 2
rs8059153
PKD1L2
16 81112070 non coding transcript exon variant T/C snv 0.90 2
rs4947534
PSPH
7 56011401 3 prime UTR variant T/A;C snv 2
rs2638314
SPRYD4 ; GLS2
12 56472550 3 prime UTR variant T/A snv 0.15 2