Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 19
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 16
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 14
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs768663992
CLUAP1
0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05 5
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 5
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv 4
rs1131691668
ASXL3
0.925 0.080 18 33742954 stop gained C/T snv 3