Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-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
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 8