Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs727503786
ABCD1
0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 6
rs377510027
DARS1
0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 6