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: rs73090721
rs73090721 		0.925 0.200 1 215817108 stop gained G/A;T snv 1.1E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs747063294
rs747063294 		0.925 0.200 1 215670974 stop gained G/A snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2014 2016
dbSNP: rs760302201
rs760302201 		0.925 0.200 1 215867018 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2015 2016
dbSNP: rs764797292
rs764797292 		0.925 0.200 1 216198513 stop gained G/A snv 1.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2000 2011
dbSNP: rs767078782
rs767078782 		0.882 0.200 1 216246784 stop gained G/C;T snv 1.2E-05 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs868562952
rs868562952 		0.925 0.200 1 216251047 stop gained G/A snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2012 2016
dbSNP: rs1057519193
rs1057519193 		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 		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: rs111033334
rs111033334 		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 		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: rs111033379
rs111033379 		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: rs111033418
rs111033418 		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: rs1163061829
rs1163061829 		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: rs1269642027
rs1269642027 		0.925 0.200 1 215844433 stop gained C/T snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1288381992
rs1288381992 		0.925 0.200 1 215790265 stop gained G/A;T snv 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1485173724
rs1485173724 		0.925 0.200 1 215965470 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1553250184
rs1553250184 		0.882 0.200 1 215648686 stop gained G/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1553250952
rs1553250952 		0.925 0.200 1 216327611 stop gained G/C snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1553265829
rs1553265829 		0.925 0.200 1 215817114 stop gained A/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1553270960
rs1553270960 		0.925 0.200 1 215867017 stop gained C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1553274424
rs1553274424 		0.925 0.200 1 215900101 stop gained C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs200712760
rs200712760 		0.925 0.200 1 215888482 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2010 2010
dbSNP: rs367674026
rs367674026 		0.925 0.200 1 215671283 stop gained G/A;C snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs397517983
rs397517983 		0.925 0.200 1 215675043 stop gained G/A snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs397517989
rs397517989 		0.925 0.200 1 215650755 stop gained C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2015 2015