Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10
rs869025316
UNC80
0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05 4
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs753520553
NAGLU
0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 10
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs483352897
NAGLU
0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 9
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 12
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13