Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1744297
ASPG
14 104102135 intron variant T/C snv 0.86 12
rs12613336 2 210704675 regulatory region variant T/C snv 0.19 6
rs13244654
SUMF2
7 56079263 intron variant T/C snv 0.48 4
rs816411
CHCHD2
1.000 0.040 7 56103796 intron variant C/T snv 0.53 3
rs7793921
PSPH ; CCT6A
7 56053188 intron variant G/A snv 0.64 3
rs11761352 7 55883254 upstream gene variant C/A snv 0.23 2
rs2538054 7 56142748 intergenic variant A/G snv 0.17 2
rs34148685 7 56156046 intergenic variant T/C snv 4.3E-02 2
rs4948106 7 56099902 downstream gene variant T/G snv 0.53 2
rs6966061 7 55781097 intergenic variant A/G snv 0.20 2
rs7782243 7 56114152 downstream gene variant A/G;T snv 2
rs816396 7 56169587 intergenic variant T/C snv 0.18 2
rs12671091
MRPS17
7 55950973 intron variant T/C snv 0.44 2
rs4535700
NIPSNAP2
7 55977755 intron variant T/C snv 0.72 2
rs2242508
PHKG1
7 56083796 intron variant A/G snv 0.49 2
rs35210477
PSPH
7 56044524 intron variant A/G snv 4.1E-02 2
rs11766051
PSPHP1
7 55770852 intron variant G/A;C;T snv 2
rs2135116
ZNF713
7 55923451 non coding transcript exon variant A/G snv 0.29 2