Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864309503
MORC2
0.882 0.200 22 30941503 missense variant G/A snv 2
rs121913599
MPZ
0.882 0.080 1 161306763 missense variant G/T snv 2
rs1553259643
MPZ
0.925 0.080 1 161306719 frameshift variant TACA/- delins 2
rs1553259703
MPZ
0.925 0.080 1 161306900 stop gained G/A snv 2
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 2
rs863225026
MPZ
0.925 0.080 1 161305973 splice acceptor variant TCTGGGGGAGGGGCG/- delins 2
rs119483085
NDRG1
0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 2
rs62636503
NEFL ; MIR6841
0.882 0.080 8 24953779 missense variant C/T snv 2
rs879253869
PMP2
0.925 0.080 8 81444935 missense variant A/T snv 2
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv 2
rs864622180
PMP22
0.925 0.080 17 15259134 frameshift variant G/- delins 2
rs879253954
PMP22
0.882 0.160 17 15230951 missense variant C/A;T snv 2
rs104894707
PRX
0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 2
rs690016543
SBF1
0.925 0.080 22 50465006 missense variant C/T snv 2
rs80338934
SH3TC2
0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 2
rs864622664
SH3TC2
0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 2
rs207482230
TFG
0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 2
rs797044801
AARS1
1.000 0.080 16 70254688 missense variant T/G snv 1
rs587777712
ARHGEF10
1.000 0.080 8 1882687 missense variant G/A;C snv 1.8E-05 1
rs1553192091
ATP1A1 ; ATP1A1-AS1
0.925 0.080 1 116395247 missense variant C/A;G snv 1
rs121909088
DNM2
0.925 0.080 19 10819992 missense variant A/G snv 1
rs199927590
DNM2
1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 1
rs267606772
DNM2
0.925 0.080 19 10793799 missense variant G/A snv 1
rs587781253
DYNC1H1
1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06 1
rs281865137
EGR2
0.851 0.080 10 62813496 missense variant C/T snv 1