Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553212978
POGZ
1.000 1 151406322 frameshift variant -/T delins 3
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs1554605030
CHD7
8 60856559 frameshift variant -/T delins 1
rs1555907749
EP300
22 41131612 frameshift variant -/T delins 1
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del 3
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins 3
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs1555039606
KMT2A
1.000 11 118482436 frameshift variant A/- delins 2
rs1555374117
MAGEL2
1.000 15 23644621 frameshift variant A/- del 2
rs1555990751
DYRK1A
1.000 21 37505307 frameshift variant A/- delins 2
rs1555809919
ADNP
1.000 20 50892427 frameshift variant A/-;AA delins 2
rs753044214
BPTF
1.000 17 67903835 frameshift variant A/-;AA delins 2
rs1563183469
AUTS2
0.925 0.120 7 70766245 missense variant A/C snv 3
rs1554596397
TRPS1
1.000 8 115604881 stop gained A/C snv 2
rs781752990
KIF7
1.000 15 89652601 splice donor variant A/C snv 3.5E-05 4.2E-05 2
rs1555205335
TRPV4
12 109788404 missense variant A/C snv 1
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs397517174
SOS1
0.925 0.160 2 39054822 missense variant A/C;G snv 3
rs760048191
MSMO1
1.000 4 165341795 missense variant A/C;G snv 1.2E-05 3
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 19
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs1331331095
DHCR7
0.925 0.080 11 71435394 missense variant A/C;T snv 3
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16