Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 7
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs140291094
STAC3
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 1
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs140614802
LOC107984670 ; ADSS1
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 7
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31