Source: ALL
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
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 10
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10