Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042718
ADRB2
0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 3
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1057518925
COL6A2
1.000 0.120 21 46114006 splice acceptor variant A/G snv 4
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs1082214
MIP
0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 6
rs11214105
TEX12 ; LOC107987164
1.000 0.120 11 112166930 intron variant G/A snv 0.25 2
rs1212171
NTRK2
0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 8
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1289543302
ABCB1
0.763 0.440 7 87536472 missense variant C/T snv 12
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs1553315329
SPAST
2 32116153 stop gained C/A;T snv 3
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1555366607
SPTB
1.000 0.080 14 64767787 missense variant A/G snv 5
rs1555889984
RUNX1
0.925 0.120 21 34834536 stop gained C/A snv 5
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs17841327
SLC6A2
16 55660341 intron variant A/C snv 0.63 1