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: rs924627806
rs924627806 		0.925 0.200 1 216422336 start lost T/C;G snv 4.0E-06 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs201657446
rs201657446 		0.882 0.200 1 215889057 splice region variant G/C snv 1.2E-05 2.8E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 9 2007 2016
dbSNP: rs771583281
rs771583281 		0.882 0.200 1 216250898 splice region variant C/T snv 4.0E-05 8.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2002 2014
dbSNP: rs111033518
rs111033518 		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: rs746331566
rs746331566 		1.000 1 215878759 splice region variant C/T snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs397518003
rs397518003 		0.925 0.200 1 216289412 splice acceptor variant T/C snv 1.6E-05 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2010 2016
dbSNP: rs748961218
rs748961218 		0.925 0.200 1 216247227 splice acceptor variant C/G snv 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2007 2016
dbSNP: rs878853407
rs878853407 		0.925 0.200 1 215741538 splice acceptor variant C/A;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2015 2017
dbSNP: rs1188025733
rs1188025733 		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
dbSNP: rs397518039
rs397518039 		0.851 0.200 1 215877882 splice acceptor variant T/C snv 3.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2010 2014
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: 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: 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: rs397518023
rs397518023 		0.925 0.200 1 216070293 splice acceptor variant C/T snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2015 2015
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: rs876657730
rs876657730 		1.000 1 216418680 splice acceptor variant C/G snv 4.0E-06; 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs143521854
rs143521854 		0.925 0.200 1 216084879 splice acceptor variant T/C snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs151148854
rs151148854 		0.925 0.200 1 215675618 splice acceptor variant T/C snv 1.6E-05 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249311
rs1553249311 		0.925 0.200 1 215639239 splice acceptor variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553261479
rs1553261479 		0.925 0.200 1 215782937 splice acceptor variant T/C snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553268594
rs1553268594 		0.925 0.200 1 215846035 splice acceptor variant T/C snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553271001
rs1553271001 		0.925 0.200 1 215867171 splice acceptor variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553271002
rs1553271002 		0.925 0.200 1 215867172 splice acceptor variant T/G snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553273421
rs1553273421 		0.925 0.200 1 215889055 splice acceptor variant C/A;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0