Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv 22
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv 22
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv 21
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 15
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs542489955
LOC105375215 ; FKBP14
0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 6
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv 5
rs281865136
EGR2
0.882 0.120 10 62813562 missense variant C/T snv 1
rs864622273
EGR2
0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06 1