Disease: obsolete Abnormal heart morphology
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 11