Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins 3
rs766667249
PIGQ
1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 3
rs80338739
SLC6A8
0.925 0.120 X 153690428 inframe deletion CTT/- delins 3
rs1553317028
SPAST
1.000 2 32128440 inframe deletion CTT/- delins 2
rs1555710171
TCF4
1.000 18 55228904 inframe deletion GTCTGGGGCTTG/- delins 2
rs1553426462
POU3F3
1.000 2 104856496 inframe deletion AGCGGCGCATCAAGC/- delins 1
rs1554340243
RMND1
1.000 6 151405237 stop lost A/G snv 2
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G snv 3
rs864622194
RAB9B ; PLP1
0.925 0.080 X 103776997 start lost T/C;G snv 3
rs201553266
NEB
0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 4
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs72658127
COL1A2
1.000 7 94413139 splice region variant A/G snv 2
rs764358419
CHMP1A
1.000 16 89649495 splice region variant G/A;T snv 1.6E-05; 1.2E-05 2
rs1553163123
DOCK7
1.000 1 62528151 splice region variant C/T snv 1
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs1197561990
NEB
0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06 3
rs1555934843
PDHA1
1.000 X 19357651 splice acceptor variant G/A snv 3
rs397517076
CBL
0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 3
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv 3
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv 2
rs137852720
EHMT1
0.925 0.160 9 137779634 splice acceptor variant G/C snv 2
rs1553182933
NFIA
1.000 1 61404103 splice acceptor variant G/A snv 2
rs1553326645
ASPM
1.000 1 197094181 splice acceptor variant C/G snv 2