Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del 6
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6
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
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del 3
rs1554129039
PURA
1.000 5 140114334 frameshift variant A/- del 3
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del 3
rs747661902
PIGQ
1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05 3
rs1209130981
LAMA2
1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05 2
rs1248355799
RYR1
1.000 19 38485770 frameshift variant ACTGCGCG/- del 1.4E-05 2
rs1426926688
LAMC3
1.000 9 131038920 frameshift variant AGCACAG/- del 8.0E-06 1.4E-05 2
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del 2
rs1553666033
NGLY1 ; OXSM
1.000 3 25783352 frameshift variant C/- del 2
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del 2
rs1555036394
KMT2A
1.000 11 118473352 frameshift variant A/- del 2
rs1555301854
SOX5
1.000 12 23734746 frameshift variant TT/- del 2
rs1555661506
TLK2
1.000 17 62602067 frameshift variant A/- del 2
rs1555912049
PTCHD1
X 23379829 frameshift variant TGCACAGCAAAGAC/- del 2
rs1555984304
DYRK1A ; LOC105372797
1.000 21 37490340 frameshift variant C/- del 2
rs1554304258
SYNGAP1
6 33420307 frameshift variant G/- del 1
rs1555321345
FOXG1
14 28768011 frameshift variant CCACTACGAC/- del 1