Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv 6
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5
rs1114167300
GRM7
0.925 0.040 3 7578878 missense variant C/T snv 6
rs1114167301
GRM7
0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 6
rs1131690805
H1-4 ; H2BC5
0.925 6 26156815 frameshift variant -/G delins 3
rs1131692154
SYNGAP1
0.925 0.160 6 33432700 stop gained C/T snv 6
rs113460156
RYR1
19 38473772 splice donor variant G/A;C snv 1
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs115079861
RMND1
1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 3
rs1156904586
ATP8A2
1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs1158141270
NALCN
0.925 13 101061967 splice donor variant C/A snv 4.0E-06 3
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1167512470
SLC52A3
1.000 20 761123 missense variant A/G snv 9.2E-06 2
rs1182326570
FBXL4
0.925 6 98926883 stop gained T/A snv 8.0E-06 3
rs1197561990
NEB
0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06 3
rs120074152
VPS13B
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06 3
rs1209130981
LAMA2
1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05 2
rs1213060424
DLG3
X 70449787 stop gained C/A;T snv 2
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs121907960
HEXA
1.000 0.120 15 72349148 inframe deletion GAA/- delins 3
rs121907966
HEXA
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 9
rs121907972
HEXA
0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 6
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv 7