Disease: Esotropia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
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
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs753635972
ST20-MTHFS ; MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs771379232
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1064793829
GATAD2B
0.882 0.160 1 153816571 frameshift variant A/- delins 5