Disease: Usher Syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 7
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 6
rs397515359
USH1C
0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04 5
rs397518039
USH2A
0.851 0.200 1 215877882 splice acceptor variant T/C snv 3.2E-05 5
rs786200928
USH2A
0.827 0.200 1 215891198 intron variant T/C snv 4.2E-05 5
rs397518043
USH2A
0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05 4
rs727503731
USH2A
0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05 4