Disease: Downward slant of palpebral fissure
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9