Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033364
rs111033364
USH2A
7 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.720 1.000 7 2004 2019
dbSNP: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.710 1.000 15 2000 2018
dbSNP: rs111033280
rs111033280
USH2A
4 0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05 0.700 1.000 10 2000 2018
dbSNP: rs397518048
rs397518048
USH2A
2 0.925 0.200 1 215817143 stop gained C/A;G snv 2.4E-05; 4.0E-06 0.700 1.000 9 2007 2016
dbSNP: rs767078782
rs767078782
USH2A
3 0.882 0.200 1 216246784 stop gained G/C;T snv 1.2E-05 7.0E-06 0.700 1.000 8 2012 2017
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 8 1998 2019
dbSNP: rs369522997
rs369522997
USH2A
3 0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05 0.700 1.000 7 2000 2016
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
3 0.882 0.200 1 216207401 frameshift variant GT/- delins 2.1E-05 0.700 1.000 7 2004 2016
dbSNP: rs397518039
rs397518039
USH2A
5 0.851 0.200 1 215877882 splice acceptor variant T/C snv 3.2E-05 0.700 1.000 6 2008 2015
dbSNP: rs111033367
rs111033367
USH2A
3 0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06 0.700 1.000 5 1998 2010
dbSNP: rs372347027
rs372347027
USH2A
2 0.925 0.200 1 215867179 intron variant T/C snv 6.8E-05 4.2E-05 0.700 1.000 4 2014 2017
dbSNP: rs375668376
rs375668376
USH2A ; LOC102723833
3 0.882 0.200 1 216073292 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 4 2013 2015
dbSNP: rs111033518
rs111033518
USH2A
2 0.925 0.200 1 215675619 splice region variant A/T snv 4.0E-06 5.6E-05 0.700 1.000 3 2012 2015
dbSNP: rs797044516
rs797044516
MYO7A
3 0.882 0.200 11 77184715 missense variant G/A;C snv 5.1E-06; 5.1E-06 0.700 1.000 3 2014 2017
dbSNP: rs111033264
rs111033264
USH2A
3 0.882 0.200 1 215782762 missense variant A/G snv 2.4E-05 6.3E-05 0.700 1.000 2 2008 2019
dbSNP: rs111033486
rs111033486
MYO7A
1 1.000 0.200 11 77156900 missense variant A/G snv 2.0E-05 4.9E-05 0.700 1.000 2 2014 2015
dbSNP: rs121912599
rs121912599
USH2A
2 0.925 0.200 1 216325492 missense variant C/T snv 6.0E-05 0.700 1.000 2 2000 2016
dbSNP: rs397516332
rs397516332
MYO7A
2 0.925 0.200 11 77214608 missense variant G/A;T snv 5.2E-06; 1.0E-05 0.700 1.000 2 2000 2017
dbSNP: rs397518022
rs397518022
USH2A ; LOC102723833
2 0.925 0.200 1 216072887 splice donor variant A/G snv 2.1E-05 0.700 1.000 2 2008 2010
dbSNP: rs786200928
rs786200928
USH2A
5 0.827 0.200 1 215891198 intron variant T/C snv 4.2E-05 0.700 1.000 2 2012 2019
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs111033178
rs111033178
MYO7A
6 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 1.000 1 1999 1999
dbSNP: rs111033201
rs111033201
MYO7A
4 0.851 0.200 11 77174825 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.6E-05 0.700 1.000 1 1998 1998
dbSNP: rs111033347
rs111033347
MYO7A
3 0.882 0.200 11 77190709 frameshift variant A/- delins 0.700 1.000 1 2007 2007
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 1 2019 2019