Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267734 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 7
rs267738
CERS2
1.000 0.040 1 150968149 missense variant T/A;G snv 4.0E-06; 0.15 4
rs34720381
PRRC2C
1 171486183 intron variant C/T snv 7.3E-02 4
rs10874312 1 82478888 intron variant G/A snv 0.70 3
rs12124078
DNAJC16
1 15543404 intron variant A/G snv 0.32 3
rs1933182 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 3
rs3850625
CACNA1S
1 201047168 missense variant G/A snv 0.12 8.9E-02 3
rs10127790
SORT1
1 109348511 intron variant C/T snv 0.63 2
rs12136063
SYPL2
1 109471548 intron variant G/A snv 0.60 2
rs12144044
RHOC
1 112706169 5 prime UTR variant C/A;G snv 0.24 2
rs1800615
CASP9
1 15505786 intron variant C/T snv 0.30 2
rs2802729
SDCCAG8
1 243338461 intron variant C/A;G;T snv 2
rs2990246
GBAP1
1 155227811 upstream gene variant G/A;C snv 2
rs7546668
DNAJC16
1 15528628 intron variant G/A;C snv 0.31 2
rs548873184
LINC00626
1 168785175 intron variant G/A;T snv 1.3E-04 1
rs573421908
SLC35F3
1 234284757 intron variant G/A;C snv 1
rs9887774 1 23375891 downstream gene variant A/C snv 1
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
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
rs17050272
LOC105373585
0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 9
rs4665987 0.925 0.120 2 27532958 upstream gene variant G/A;T snv 6
rs13538
NAT8 ; ALMS1P1
1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 5