Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs57983345
LMNA
0.851 0.160 1 156115034 missense variant A/G snv 6
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv 4
rs772816537
TPM3
1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06 3
rs1057518805
SYT2 ; LOC105371686
1 202596928 inframe deletion ATAGTC/- delins 2
rs1373219981
ATP13A2
1 17011736 start lost C/A snv 1.3E-05 2
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 9
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 6
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 6
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv 4
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4
rs757725417
IMMT
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 3
rs369447743
DCAF17 ; METTL8
2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 2
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
rs75586164
SMN2
0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 4
rs121908893
SLC22A5
1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 3
rs746438011
SYNE1
0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 4
rs117184249
SYNE1
1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 3
rs750174047
DNAH8
1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 3