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: rs397517963
rs397517963
USH2A
0.882 0.200 1 216325448 missense variant G/A;C snv 5.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 9 1998 2016
dbSNP: rs368049814
rs368049814
USH2A
0.851 0.200 1 215786715 missense variant C/T snv 3.6E-05 7.7E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 8 1998 2017
dbSNP: rs148660051
rs148660051
USH2A
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: rs202175091
rs202175091
USH2A
0.925 0.200 1 215782070 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 7 2006 2016
dbSNP: rs111033263
rs111033263
USH2A
0.882 0.200 1 215799066 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 6 1998 2014
dbSNP: rs201527662
rs201527662
USH2A
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 5 2000 2016
dbSNP: rs369522997
rs369522997
USH2A
0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 5 1998 2014
dbSNP: rs527236139
rs527236139
USH2A
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 5 2000 2016
dbSNP: rs753330544
rs753330544
USH2A
0.882 0.200 1 215674595 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 5 2010 2016
dbSNP: rs375668376
rs375668376
USH2A ; LOC102723833
0.882 0.200 1 216073292 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 4 2013 2015
dbSNP: rs397517990
rs397517990
USH2A
0.925 0.200 1 215650648 missense variant C/T snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 4 1998 2017
dbSNP: rs111033264
rs111033264
USH2A
0.882 0.200 1 215782762 missense variant A/G snv 2.4E-05 6.3E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 3 1998 2016
dbSNP: rs111033273
rs111033273
USH2A
0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 3 1998 2016
dbSNP: rs121912600
rs121912600
USH2A
0.925 0.200 1 216324240 missense variant C/A snv 4.0E-05 7.7E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 3 1998 2013
dbSNP: rs121912600
rs121912600
USH2A
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 3 2000 2013
dbSNP: rs1553261372
rs1553261372
USH2A
0.925 0.200 1 215782146 missense variant C/T snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 3 1998 2014
dbSNP: rs80338902
rs80338902
USH2A
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 3 2000 2014
dbSNP: rs80338902
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 3 1998 2014
dbSNP: rs111033280
rs111033280
USH2A
0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 2 1998 2015
dbSNP: rs121912599
rs121912599
USH2A
0.925 0.200 1 216325492 missense variant C/T snv 6.0E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 0 1998 2013
dbSNP: rs143344549
rs143344549
USH2A
1.000 0.200 1 215648657 missense variant G/A snv 6.4E-05 1.2E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 0 1998 2013
dbSNP: rs527236137
rs527236137
USH2A
0.925 0.200 1 215674901 missense variant G/A;C snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 0 1998 2013
dbSNP: rs80338904
rs80338904
USH2A
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 0 2000 2013
dbSNP: rs80338902
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.750 1.000 2 2000 2019
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.720 1.000 5 2004 2019