Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs387906597
BMP4
0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06 2
rs137852520
L1CAM
0.851 0.200 X 153868866 missense variant C/T snv 2
rs367543077
B3GALNT2 ; TBCE
0.882 0.120 1 235450286 stop gained G/A snv 1
rs778740017
COX6B1
0.925 0.120 19 35651301 missense variant C/T snv 4.0E-06 1
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 1
rs398122368
SMARCB1
0.925 0.040 22 23791772 missense variant G/A;C snv 1
rs869025667
VHL
0.827 0.200 3 10149916 missense variant T/C snv 1