Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794729221
SLC2A1
0.925 0.240 1 42929736 stop gained G/A snv 2
rs796053290
SLC9A6
0.925 0.280 X 135998095 splice region variant TTTTA/- delins 2
rs869312674
SYNGAP1
0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 2
rs1569146649
TCF20
1.000 0.200 22 42211545 frameshift variant -/T delins 2
rs398123561
TCF4
0.925 0.240 18 55350391 frameshift variant CTTT/- delins 2
rs878853149
TCF4
0.925 0.240 18 55350388 stop gained G/A snv 2
rs2276382
TTR
1.000 0.200 18 31598648 synonymous variant G/A snv 3.4E-03 1.1E-03 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
rs1471281484
WAPL
1.000 0.200 10 86500266 missense variant T/C snv 4.0E-06 2
rs1569161831
CNKSR2
1.000 0.200 X 21426661 splice donor variant G/A snv 1
rs878853152
CUL4B
1.000 0.200 X 120547154 frameshift variant TG/- delins 1
rs765556214
GRIA4
1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 1
rs878853146
IL1RAPL1
1.000 0.200 X 29917576 frameshift variant TTGGGAAAGT/- delins 1
rs878853144
IQSEC2
1.000 0.200 X 53239213 stop gained G/A snv 1
rs878853151
KDM5C
1.000 0.200 X 53211601 frameshift variant -/A delins 1
rs878853141
KDM5C ; MIR6894
1.000 0.200 X 53199068 missense variant C/G snv 1
rs1562928193
KMT2E
1.000 0.200 7 105102045 frameshift variant -/TA delins 1
rs1555455456
PDIA3
1.000 0.200 15 43753826 missense variant G/A snv 1
rs878853148
PHF8
1.000 0.200 X 54002150 splice region variant C/G snv 1
rs878853145
PQBP1 ; SLC35A2
1.000 0.200 X 48903017 missense variant C/T snv 1
rs878853142
RAI1
1.000 0.200 17 17795278 frameshift variant GGCAT/- delins 1
rs1555910048
SHANK3
1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 1