Source: CLINVAR ×
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
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 24
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 6
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 6
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs730882250
DPH1
0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 5
rs1569234334
KIF4A
0.851 0.200 X 70329420 missense variant G/T snv 5
rs1563406024
FZD3
0.851 0.240 8 28555799 frameshift variant -/A delins 4
rs730882200
ARFGEF2
0.882 0.040 20 48953604 frameshift variant -/C delins 3
rs869312714
CREBBP
0.925 0.120 16 3729810 missense variant C/A snv 3
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 3
rs730882225
NID1
0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 3