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: rs201527662
rs201527662 		0.827 0.200 1 216246592 missense variant A/C snv 2.1E-04 6.3E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 1.000 15 2000 2016
dbSNP: rs527236139
rs527236139 		0.882 0.200 1 215759735 missense variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 1.000 14 2000 2016
dbSNP: rs121912600
rs121912600 		0.925 0.200 1 216324240 missense variant C/A snv 4.0E-05 7.7E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 1.000 13 2000 2013
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 1.000 13 2000 2014
dbSNP: rs80338904
rs80338904 		0.882 0.200 1 215671085 missense variant T/C;G snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 1.000 10 2000 2013
dbSNP: rs148660051
rs148660051 		0.882 0.200 1 215790168 missense variant C/T snv 3.5E-04 5.5E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 1.000 7 2010 2015
dbSNP: rs111033269
rs111033269 		1.000 1 215628900 missense variant C/T snv 3.1E-03; 4.0E-06 3.7E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs111033275
rs111033275 		0.925 0.200 1 215675568 missense variant G/A snv 3.1E-04 5.4E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs111033435
rs111033435 		1.000 1 215628905 missense variant C/G;T snv 8.0E-06; 3.9E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs1212098704
rs1212098704 		1.000 1 216247179 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs139474806
rs139474806 		1.000 1 215674572 missense variant T/A;C snv 1.2E-05; 1.2E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs1402464909
rs1402464909 		1.000 1 215779965 missense variant A/G snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs143275144
rs143275144 		1.000 1 215648591 missense variant A/G snv 3.1E-04 3.0E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs199605265
rs199605265 		0.882 0.200 1 215675336 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs201238640
rs201238640 		0.925 0.200 1 215674637 missense variant G/A snv 4.4E-05 4.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs35730265
rs35730265 		0.925 0.200 1 216323590 missense variant C/G snv 1.2E-02 1.3E-02
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs372137776
rs372137776 		1.000 1 215675169 missense variant G/T snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs397518006
rs397518006 		1.000 1 216246662 missense variant G/A;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs553202000
rs553202000 		1.000 1 215790090 missense variant G/A;T snv 4.0E-06; 4.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs58257972
rs58257972 		1.000 1 215625828 missense variant T/C snv 1.3E-02 4.9E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs754774098
rs754774098 		1.000 1 215867062 missense variant A/C snv 3.6E-05 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs75698489
rs75698489 		1.000 1 216070218 missense variant G/A snv 4.4E-04 2.0E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs778158900
rs778158900 		1.000 1 215779930 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs111033272
rs111033272 		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: 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