Disease: Brachycephaly
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19