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: rs1553268563
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015
dbSNP: rs1553268563
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015
dbSNP: rs80338902
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.710 1.000 14 2000 2018
dbSNP: rs111033280
rs111033280
USH2A
0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 10 2000 2018
dbSNP: rs111033272
rs111033272
USH2A
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: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 9 2004 2016
dbSNP: rs201657446
rs201657446
USH2A
0.882 0.200 1 215889057 splice region variant G/C snv 1.2E-05 2.8E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 9 2007 2016
dbSNP: rs201657446
rs201657446
USH2A
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: rs397517963
rs397517963
USH2A
0.882 0.200 1 216325448 missense variant G/A;C snv 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 9 2000 2016
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: rs397518048
rs397518048
USH2A
0.925 0.200 1 215817143 stop gained C/A;G snv 2.4E-05; 4.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 9 2007 2016
dbSNP: rs772808534
rs772808534
USH2A
0.882 0.200 1 216422237 stop gained G/A snv 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 9 2000 2017
dbSNP: rs772808534
rs772808534
USH2A
0.882 0.200 1 216422237 stop gained G/A snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 9 2000 2017
dbSNP: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 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: rs368049814
rs368049814
USH2A
0.851 0.200 1 215786715 missense variant C/T snv 3.6E-05 7.7E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 8 2010 2017
dbSNP: rs767078782
rs767078782
USH2A
0.882 0.200 1 216246784 stop gained G/C;T snv 1.2E-05 7.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 8 2012 2017
dbSNP: rs781223647
rs781223647
USH2A
0.925 0.200 1 216422150 stop gained G/A;T snv 1.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 8 2000 2016
dbSNP: rs781223647
rs781223647
USH2A
0.925 0.200 1 216422150 stop gained G/A;T snv 1.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 8 2000 2016
dbSNP: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 8 1998 2019
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: rs369522997
rs369522997
USH2A
0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 7 2000 2016