Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs72664233
ABCC6
0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 10
rs797044521
LOC105372797 ; DYRK1A
0.925 21 37480768 frameshift variant A/- delins 8
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs1563322318
ERI1
0.925 0.120 8 9018335 frameshift variant A/- delins 4
rs1131692268
KMT2A
0.925 0.240 11 118504037 frameshift variant A/- delins 2
rs1569513017
ATRX
1.000 X 77508625 frameshift variant A/- del 1
rs777686211
CPLANE1
0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04 5
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins 4
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 8
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv 5
rs142375870
MAG
0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 3
rs1557714302
PPT1
0.925 0.120 1 40092486 stop gained A/C snv 3
rs1564069807
AGTPBP1
0.925 0.040 9 85619213 splice donor variant A/C snv 3
rs730882222
SLC13A5
0.925 0.040 17 6707026 splice donor variant A/C snv 3
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10