Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
rs794729221
SLC2A1
0.925 0.240 1 42929736 stop gained G/A snv 2
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs121918368
CRBN ; TRNT1
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 3
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 3
rs745986648
SGO1-AS1 ; SGO1
1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 2
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs869312674
SYNGAP1
0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 2
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5
rs199516560
ABCB1
0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 5
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 4
rs255012 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 2
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs1335072648
RAD21
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 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
rs587777696
SLC1A1 ; SPATA6L
0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 3
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
rs878853143
GRIN1
0.925 0.200 9 137162209 missense variant C/G;T snv 2