Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1003869920
rs1003869920
USH2A
0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2011 2017
dbSNP: rs1035024403
rs1035024403
USH2A
0.882 0.200 1 216048648 splice acceptor variant C/T snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1057517533
rs1057517533
USH2A
0.925 0.200 1 215674648 frameshift variant GGAGAAG/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2013 2014
dbSNP: rs1057519193
rs1057519193
USH2A
0.925 0.200 1 215759786 stop gained C/T snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1064793745
rs1064793745
USH2A ; LOC105372918
0.925 0.200 1 216199931 stop gained C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1064797134
rs1064797134
USH2A
0.925 0.200 1 215878800 stop gained C/T snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2016 2016
dbSNP: rs111033263
rs111033263
USH2A
0.882 0.200 1 215799066 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2006 2014
dbSNP: rs111033264
rs111033264
USH2A
0.882 0.200 1 215782762 missense variant A/G snv 2.4E-05 6.3E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2012 2016
dbSNP: rs111033268
rs111033268
USH2A
0.925 0.200 1 216046454 frameshift variant TGCCTGAATAGATC/- delins 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2009 2010
dbSNP: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 9 2004 2016
dbSNP: rs111033273
rs111033273
USH2A
0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2000 2016
dbSNP: rs111033280
rs111033280
USH2A
0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2014 2015
dbSNP: rs111033334
rs111033334
USH2A
0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs111033367
rs111033367
USH2A
0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2009 2009
dbSNP: rs111033379
rs111033379
USH2A
0.925 0.200 1 215782873 stop gained G/A;T snv 2.8E-05; 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs111033382
rs111033382
USH2A
0.925 0.200 1 215759659 splice donor variant C/A;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs111033385
rs111033385
USH2A
0.925 0.200 1 215674781 stop gained G/A;T snv 8.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2012 2014
dbSNP: rs111033418
rs111033418
USH2A
0.925 0.200 1 215780023 stop gained G/A snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs111033518
rs111033518
USH2A
0.925 0.200 1 215675619 splice region variant A/T snv 4.0E-06 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2012 2015
dbSNP: rs1162305984
rs1162305984
USH2A ; LOC102723833
0.925 0.200 1 216084847 missense variant A/G snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2014 2017
dbSNP: rs1163061829
rs1163061829
USH2A
0.925 0.200 1 215674817 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1177198729
rs1177198729
USH2A ; LOC105372918
0.882 0.200 1 216196630 stop gained C/A;G snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2007 2015
dbSNP: rs1177257719
rs1177257719
USH2A
0.925 0.200 1 215674099 splice donor variant C/T snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1188025733
rs1188025733
USH2A
0.925 0.200 1 216325595 splice acceptor variant CT/- delins 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2012 2014