Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554189042
NSD1
1.000 5 177210101 stop gained -/AG ins 2
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del 3
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del 3
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del 3
rs747661902
PIGQ
1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05 3
rs755531536
NEB
0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06 3
rs1189399471
ASPM
1.000 1 197103099 frameshift variant T/- del 2
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs1555187440
KMT2D
1.000 12 49031293 frameshift variant TT/- del 2
rs1555374117
MAGEL2
1.000 15 23644621 frameshift variant A/- del 2
rs1555648564
PPM1D
1.000 17 60656807 frameshift variant TG/- del 2
rs1555899379
SON
1.000 21 33554726 stop gained CTG/- del 2
rs587776897
CANT1
1.000 0.160 17 78997345 frameshift variant AG/- del 6.3E-05 2
rs869312965
GLI2
1.000 2 120955349 frameshift variant G/- del 2
rs1553961697
ZEB2
2 144399650 frameshift variant G/- del 1
rs1554231814
ARID1B
6 157184262 frameshift variant C/- del 1
rs1554643463
PUF60
8 143818387 frameshift variant T/- del 1
rs1554787366
COL27A1
9 114167926 frameshift variant T/- del 1
rs1555478331
CREBBP
16 3757990 frameshift variant T/- del 1
rs1556267123
PLP1 ; RAB9B
X 103786627 frameshift variant AG/- del 1
rs779617179
NRP2
2 205763747 frameshift variant T/- del 7.0E-06 1