Disease: Narrow forehead
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs1064796738
KIF11
1.000 0.240 10 92606655 stop gained C/T snv 5