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
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25