Disease: Depressed nasal bridge
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 11
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11