Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 9
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs61738009
CPA6 ; LOC102724708
0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 9
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9