Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 6
rs119103286
TTC8
0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 5
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins 4
rs878853162
TUBB
0.851 0.320 6 30723724 missense variant C/T snv 4
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv 5
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs1057519561
SNX14
0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 4