Disease: Smooth philtrum
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34