Gene: USH2A ×
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: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.750 1.000 6 2000 2019
dbSNP: rs80338904
rs80338904
USH2A
3 0.882 0.200 1 215671085 missense variant T/C;G snv 0.710 1.000 1 2007 2007
dbSNP: rs1003869920
rs1003869920
USH2A
2 0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06 0.700 1.000 2 2011 2019
dbSNP: rs111033364
rs111033364
USH2A
7 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 1.000 2 2004 2019
dbSNP: rs397518043
rs397518043
USH2A
4 0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05 0.700 1.000 2 2000 2019
dbSNP: rs527236139
rs527236139
USH2A
3 0.882 0.200 1 215759735 missense variant C/A;T snv 4.0E-06; 5.6E-05 0.700 1.000 2 2014 2019
dbSNP: rs750396156
rs750396156
USH2A
3 0.882 0.200 1 215675337 missense variant G/A snv 3.2E-05 3.5E-05 0.700 1.000 2 2013 2019
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 2 1998 2019
dbSNP: rs111033263
rs111033263
USH2A
3 0.882 0.200 1 215799066 missense variant A/G snv 4.0E-06 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs111033273
rs111033273
USH2A
3 0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs148660051
rs148660051
USH2A
3 0.882 0.200 1 215790168 missense variant C/T snv 3.5E-04 5.5E-04 0.700 1.000 1 2010 2010
dbSNP: rs1553252388
rs1553252388
USH2A
1 1.000 0.080 1 215674564 protein altering variant AGAGTCCATGTTC/CAAG delins 0.700 1.000 1 2019 2019
dbSNP: rs199605265
rs199605265
USH2A
3 0.882 0.200 1 215675336 missense variant C/T snv 5.9E-04 4.5E-04 0.700 1.000 1 2010 2010
dbSNP: rs368049814
rs368049814
USH2A
4 0.851 0.200 1 215786715 missense variant C/T snv 3.6E-05 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs397518026
rs397518026
USH2A
3 0.882 0.200 1 216365084 missense variant A/C;T snv 4.0E-06; 3.2E-05 0.700 1.000 1 2001 2001
dbSNP: rs397518041
rs397518041
USH2A
3 0.882 0.200 1 215845898 stop gained C/T snv 1.6E-05 1.4E-05 0.700 1.000 1 2009 2009
dbSNP: rs727503731
rs727503731
USH2A
4 0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2000 2000
dbSNP: rs727505337
rs727505337
USH2A
1 1.000 0.080 1 215743285 stop gained C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs746551311
rs746551311
USH2A ; LOC105372918
3 0.882 0.200 1 216196582 stop gained G/A snv 6.0E-05 7.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs753330544
rs753330544
USH2A
3 0.882 0.200 1 215674595 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
3 0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs762388072
rs762388072
USH2A
1 1.000 0.080 1 215674580 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs772808534
rs772808534
USH2A
3 0.882 0.200 1 216422237 stop gained G/A snv 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs779791079
rs779791079
USH2A
3 0.882 0.200 1 215728220 frameshift variant GT/- delins 4.0E-06 1.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs786200928
rs786200928
USH2A
5 0.827 0.200 1 215891198 intron variant T/C snv 4.2E-05 0.700 1.000 1 2019 2019