Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs122455132
SLC16A2
0.925 0.200 X 74529232 missense variant T/C snv 2
rs587777696
SLC1A1 ; SPATA6L
0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 3
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs794729221
SLC2A1
0.925 0.240 1 42929736 stop gained G/A snv 2
rs796053290
SLC9A6
0.925 0.280 X 135998095 splice region variant TTTTA/- delins 2
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05 5
rs869312674
SYNGAP1
0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 2
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs1569146649
TCF20
1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs398123561
TCF4
0.925 0.240 18 55350391 frameshift variant CTTT/- delins 2
rs878853149
TCF4
0.925 0.240 18 55350388 stop gained G/A snv 2
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 3
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv 5
rs723744
TTR
0.925 0.200 18 31592513 intron variant G/T snv 0.38 3
rs2276382
TTR
1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 2
rs6530893
TUSC3
1.000 0.200 8 15671068 intron variant T/C snv 0.14 2
rs6994908
TUSC3
1.000 0.200 8 15674943 intron variant T/C snv 0.32 2
rs122468181
UPF3B
0.925 0.200 X 119837771 stop gained G/A;T snv 3
rs1282813621
UPF3B
0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 3
rs140032597
UPF3B
0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 3
rs762578331
UPF3B
0.925 0.200 X 119837939 missense variant G/A;T snv 8.2E-05; 5.5E-06 3
rs1471281484
WAPL
1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 2