USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: RETINITIS PIGMENTOSA 39 (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs374536346
rs374536346 		0.925 0.200 1 216418693 intron variant C/T snv 2.0E-05 4.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2010 2017
dbSNP: rs372347027
rs372347027 		0.925 0.200 1 215867179 intron variant T/C snv 6.8E-05 4.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2014 2016
dbSNP: rs786200928
rs786200928 		0.827 0.200 1 215891198 intron variant T/C snv 4.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2012 2016
dbSNP: rs772808534
rs772808534 		0.882 0.200 1 216422237 stop gained G/A snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 9 2000 2017
dbSNP: rs781223647
rs781223647 		0.925 0.200 1 216422150 stop gained G/A;T snv 1.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 8 2000 2016
dbSNP: rs146733615
rs146733615 		0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2007 2014
dbSNP: rs779572631
rs779572631 		0.925 0.200 1 215838092 stop gained G/T snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2010 2016
dbSNP: rs1003869920
rs1003869920 		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: rs1394737087
rs1394737087 		0.925 0.200 1 216246597 stop gained G/A snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2000 2016
dbSNP: rs397517979
rs397517979 		0.925 0.200 1 216324269 stop gained C/G;T snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2000 2012
dbSNP: rs398124619
rs398124619 		0.851 0.200 1 215970720 stop gained C/A snv 8.0E-06 2.8E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2009 2016
dbSNP: rs746551311
rs746551311 		0.882 0.200 1 216196582 stop gained G/A snv 6.0E-05 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2004 2016
dbSNP: rs756623509
rs756623509 		0.925 0.200 1 216198476 stop gained G/C snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2005 2015
dbSNP: rs765476745
rs765476745 		0.925 0.200 1 215674290 stop gained G/A snv 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2012 2017
dbSNP: rs772100045
rs772100045 		0.925 0.200 1 215817098 stop gained G/A;C snv 1.6E-05; 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2011 2015
dbSNP: rs1064797134
rs1064797134 		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: rs111033385
rs111033385 		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: rs1177198729
rs1177198729 		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: rs1362058696
rs1362058696 		0.882 0.200 1 215675092 stop gained A/G;T snv 8.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2016 2017
dbSNP: rs1553273330
rs1553273330 		0.925 0.200 1 215888570 stop gained C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2016 2016
dbSNP: rs1553299079
rs1553299079 		0.925 0.200 1 216078262 stop gained C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2014 2015
dbSNP: rs199679165
rs199679165 		0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2007 2011
dbSNP: rs397517994
rs397517994 		0.882 0.200 1 215640615 stop gained G/A snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2012 2015
dbSNP: rs397518011
rs397518011 		0.925 0.200 1 216207280 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2016 2016
dbSNP: rs397518036
rs397518036 		0.882 0.200 1 216327619 stop gained G/A;C snv 8.0E-06; 8.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2011 2014