Disease: Strabismus
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
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
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12