Disease: Nasal bridge wide
Source: INFERRED ×
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
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7