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: rs1035024403
rs1035024403 		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: 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: rs1553261478
rs1553261478 		0.925 0.200 1 215782936 splice acceptor variant C/G;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs751111524
rs751111524 		0.882 0.200 1 215813906 splice acceptor variant T/C snv 1.2E-05 2.8E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs768161313
rs768161313 		0.925 0.200 1 215674796 frameshift variant ATTT/- del 1.2E-05 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2017 2017
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: 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: 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: rs748810737
rs748810737 		0.925 0.200 1 215844293 splice donor variant C/A;T snv 1.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2016 2017
dbSNP: rs886041502
rs886041502 		0.925 0.200 1 215888698 frameshift variant -/G delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2016 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: 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: rs1295968274
rs1295968274 		0.925 0.200 1 215634556 frameshift variant A/- del 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
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: rs1553248216
rs1553248216 		0.925 0.200 1 215628953 frameshift variant G/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1553313909
rs1553313909 		0.925 0.200 1 216200122 splice acceptor variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs397517978
rs397517978 		0.882 0.200 1 215680378 splice acceptor variant T/C snv 8.4E-05 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs398124618
rs398124618 		1.000 1 215680208 frameshift variant CT/- delins 8.0E-06 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs727503715
rs727503715 		1.000 1 215674537 frameshift variant T/- delins 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs747160949
rs747160949 		0.925 0.200 1 215639229 frameshift variant AA/- delins 8.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016