Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 25
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20