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: rs1284826852
rs1284826852
USH2A
0.925 0.200 1 215993152 frameshift variant -/A delins 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1284826852
rs1284826852
USH2A
0.925 0.200 1 215993152 frameshift variant -/A delins 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs786205115
rs786205115
USH2A ; LOC105372918
1.000 0.200 1 216217414 frameshift variant -/A delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553281890
rs1553281890
USH2A
0.925 0.200 1 215965331 frameshift variant -/AT delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553281890
rs1553281890
USH2A
0.925 0.200 1 215965331 frameshift variant -/AT delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs587776538
rs587776538
USH2A
0.925 0.200 1 216422096 frameshift variant -/ATCG;TACG delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs587776538
rs587776538
USH2A
0.925 0.200 1 216422096 frameshift variant -/ATCG;TACG delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553313793
rs1553313793
USH2A ; LOC105372918
0.925 0.200 1 216199757 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1553313793
rs1553313793
USH2A ; LOC105372918
0.925 0.200 1 216199757 frameshift variant -/C delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2014 2014
dbSNP: rs1553256576
rs1553256576
USH2A
0.925 0.200 1 215728280 frameshift variant -/C delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553256576
rs1553256576
USH2A
0.925 0.200 1 215728280 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553256587
rs1553256587
USH2A
0.925 0.200 1 215728361 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553256587
rs1553256587
USH2A
0.925 0.200 1 215728361 frameshift variant -/C delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553285970
rs1553285970
USH2A
0.925 0.200 1 215993149 frameshift variant -/C delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553285970
rs1553285970
USH2A
0.925 0.200 1 215993149 frameshift variant -/C delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs774573692
rs774573692
USH2A
0.925 0.200 1 215888469 frameshift variant -/C delins 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs774573692
rs774573692
USH2A
0.925 0.200 1 215888469 frameshift variant -/C delins 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs886041502
rs886041502
USH2A
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: rs886041502
rs886041502
USH2A
0.925 0.200 1 215888698 frameshift variant -/G delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2016 2016
dbSNP: rs1553294144
rs1553294144
USH2A
0.925 0.200 1 216046577 frameshift variant -/G delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553294144
rs1553294144
USH2A
0.925 0.200 1 216046577 frameshift variant -/G delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
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
dbSNP: rs397518043
rs397518043
USH2A
0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2014 2014
dbSNP: rs397518043
rs397518043
USH2A
0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 1 2000 2000
dbSNP: rs397518043
rs397518043
USH2A
0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2014 2014