Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1057518872
GJA1
0.882 0.160 6 121447287 missense variant T/C snv 5
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv 7
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17