Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141228574
COQ4
1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 2
rs1427146168
NUP214
1.000 0.200 9 131140671 stop gained C/T snv 2
rs1471281484
WAPL
1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 2
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
rs1555050158
GRIA4
0.925 0.200 11 105926808 missense variant A/T snv 2
rs1555050165
GRIA4
0.925 0.200 11 105926814 missense variant A/G snv 3
rs1555050171
GRIA4
0.925 0.200 11 105926821 missense variant C/G snv 2
rs1555050174
GRIA4
0.925 0.200 11 105926824 missense variant C/T snv 2
rs1555455456
PDIA3
1.000 0.200 15 43753826 missense variant G/A snv 1
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1555910048
SHANK3
1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs1569146649
TCF20
1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs1569161831
CNKSR2
1.000 0.200 X 21426661 splice donor variant G/A snv 1
rs165656
COMT
0.925 0.200 22 19961340 intron variant G/A;C;T snv 5
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs185645212
POLG
0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 6
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv 3
rs199516560
ABCB1
0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 5
rs225010
DIO2
1.000 0.200 14 80205936 intron variant C/T snv 0.51 2
rs225012
DIO2
1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 2
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 11
rs2276382
TTR
1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 2
rs255012 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 2
rs267608383
MECP2
1.000 0.200 X 154030643 frameshift variant TCGGGCTC/- delins 5.8E-06 2