Disease: Exaggerated cupid's bow
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15