Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1003869920
rs1003869920
USH2A
0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2011 2019
dbSNP: rs1035024403
rs1035024403
USH2A
0.882 0.200 1 216048648 splice acceptor variant C/T snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs111033263
rs111033263
USH2A
0.882 0.200 1 215799066 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs111033273
rs111033273
USH2A
0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2004 2019
dbSNP: rs1172628170
rs1172628170
USH2A
1.000 0.080 1 215675463 missense variant T/C snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1177198729
rs1177198729
USH2A ; LOC105372918
0.882 0.200 1 216196630 stop gained C/A;G snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1359713084
rs1359713084
USH2A
1.000 0.080 1 216325522 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs138398671
rs138398671
USH2A
1.000 0.080 1 215674515 missense variant G/A snv 2.2E-04 2.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs148660051
rs148660051
USH2A
0.882 0.200 1 215790168 missense variant C/T snv 3.5E-04 5.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2010 2010
dbSNP: rs150230450
rs150230450
USH2A
1.000 0.080 1 216046523 missense variant G/C snv 2.3E-04 1.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1553252388
rs1553252388
USH2A
1.000 0.080 1 215674564 protein altering variant AGAGTCCATGTTC/CAAG delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1553257685
rs1553257685
USH2A
1.000 0.080 1 215743218 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1553263639
rs1553263639
USH2A
1.000 0.080 1 215799080 missense variant C/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1553273280
rs1553273280
USH2A
1.000 0.080 1 215888425 splice donor variant C/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1553274531
rs1553274531
USH2A
1.000 0.080 1 215900848 missense variant A/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs199605265
rs199605265
USH2A
0.882 0.200 1 215675336 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2010 2010
dbSNP: rs199840367
rs199840367
USH2A
1.000 0.080 1 215970645 missense variant C/A;G;T snv 1.2E-04; 4.0E-06; 9.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs201527662
rs201527662
USH2A
0.827 0.200 1 216246592 missense variant A/C snv 2.1E-04 6.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs35818432
rs35818432
USH2A
0.925 0.200 1 216292352 missense variant G/C snv 1.3E-03 7.8E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs368049814
rs368049814
USH2A
0.851 0.200 1 215786715 missense variant C/T snv 3.6E-05 7.7E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2013 2013
dbSNP: rs397518026
rs397518026
USH2A
0.882 0.200 1 216365084 missense variant A/C;T snv 4.0E-06; 3.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2001 2001
dbSNP: rs397518039
rs397518039
USH2A
0.851 0.200 1 215877882 splice acceptor variant T/C snv 3.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs397518041
rs397518041
USH2A
0.882 0.200 1 215845898 stop gained C/T snv 1.6E-05 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2009 2009
dbSNP: rs397518043
rs397518043
USH2A
0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2000 2019