Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
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
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 14
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs387906692
FAM20A ; PRKAR1A
0.752 0.480 17 68530405 stop gained C/T snv 8
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7
rs1565977796
CDK8
0.882 0.120 13 26337623 stop gained C/A snv 7
rs201037487
FAM98C
0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 7
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs367557471
CHD7
1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05 4
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs752738546
DDX3X
1.000 X 41343802 stop gained G/A;T snv 5.6E-06 4