Disease: Amblyopia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
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
rs113994152
TSEN54
0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 9
rs1085307139
SCRIB ; PUF60
0.925 0.040 8 143817380 frameshift variant -/C delins 5