Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 11
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs748106387
SMARCAL1
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 9
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv 5
rs137852686
NKX2-5
0.851 0.080 5 173232997 missense variant T/C snv 1
rs1057519050
TBX5
1.000 0.080 12 114398679 missense variant A/C snv 1