Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555912897
ASXL1
1.000 20 32436833 frameshift variant -/G delins 2
rs1554269855
LAMA2
6 129315773 frameshift variant -/G delins 1
rs1554818540
RET
10 43111366 frameshift variant -/G delins 1
rs1554879633
EHMT1
9 137778049 frameshift variant -/G delins 1
rs797044884
PTRH2 ; CLTC
0.925 17 59677123 frameshift variant -/GA delins 4
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs1553251507
MINDY1 ; PRUNE1
1 151008634 frameshift variant -/GGAGG delins 1
rs1554884733
VPS13B
1.000 8 99641974 frameshift variant -/GTCC delins 3
rs730882197
C12orf4
0.925 0.040 12 4525342 frameshift variant -/GTTT delins 4
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1156904586
ATP8A2
1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs1553212978
POGZ
1.000 1 151406322 frameshift variant -/T delins 3
rs1555528558
ANKRD11
1.000 16 89283207 frameshift variant -/T delins 3
rs1555923822
TCF20
1.000 22 42210236 frameshift variant -/T delins 3
rs1555806893
CNOT3 ; LOC102724273
1.000 19 54149592 frameshift variant -/T delins 2
rs1553881510
SEPSECS
4 25155086 frameshift variant -/T delins 1
rs1557136758
MECP2
X 154031215 frameshift variant -/T delins 1
rs606231128
DOK7
0.882 0.120 4 3493106 frameshift variant -/TGCC delins 4
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs1554129039
PURA
1.000 5 140114334 frameshift variant A/- del 3
rs1554728529
NOTCH1
1.000 9 136508989 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
rs1555036394
KMT2A
1.000 11 118473352 frameshift variant A/- del 2
rs1555661506
TLK2
1.000 17 62602067 frameshift variant A/- del 2