Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 6
rs1060499542
PDGFRB
0.827 0.120 5 150125556 missense variant A/G snv 3
rs730882247
TMEM92
0.882 0.040 17 50277743 splice region variant A/G snv 3
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 1
rs869312714
CREBBP
0.925 0.120 16 3729810 missense variant C/A snv 3
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
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 6
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs730882225
NID1
0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 3
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 3
rs137852520
L1CAM
0.851 0.200 X 153868866 missense variant C/T snv 2
rs778740017
COX6B1
0.925 0.120 19 35651301 missense variant C/T snv 4.0E-06 1
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7
rs367543077
B3GALNT2 ; TBCE
0.882 0.120 1 235450286 stop gained G/A snv 1
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs387906597
BMP4
0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06 2
rs398122368
SMARCB1
0.925 0.040 22 23791772 missense variant G/A;C snv 1