Disease: Strabismus
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 3