Disease: Nasal bridge wide
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19