Disease: Strabismus
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
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs1555570110
MPDU1
0.827 0.240 17 7586766 missense variant A/C snv 9
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9