Source: CURATED

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: 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 24 1998 2017
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 23 1998 2014
dbSNP: rs1553250805
rs1553250805
USH2A
1.000 0.200 1 216325528 missense variant C/A snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 21 1998 2013
dbSNP: rs1553252475
rs1553252475
USH2A
1.000 0.200 1 215675105 missense variant G/C snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 21 1998 2013
dbSNP: rs1308924086
rs1308924086
USH2A
1.000 0.200 1 215782886 missense variant C/A snv 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
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: rs372137776
rs372137776
USH2A
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
USH2A
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: 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 10 2000 2013
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: rs886039450
rs886039450
USH2A ; LOC105372918
0.882 0.200 1 216207401 frameshift variant GT/- delins 2.1E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 7 2004 2016
dbSNP: rs483353055
rs483353055
USH2A ; LOC105372918
0.827 0.200 1 216200031 missense variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2012 2017
dbSNP: rs483353055
rs483353055
USH2A ; LOC105372918
0.827 0.200 1 216200031 missense variant C/T snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 5 2012 2017
dbSNP: rs397517990
rs397517990
USH2A
0.925 0.200 1 215650648 missense variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2010 2017
dbSNP: rs750228923
rs750228923
USH2A
0.925 0.200 1 216324282 frameshift variant T/- delins 2.8E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 4 2005 2011
dbSNP: rs878853407
rs878853407
USH2A
0.925 0.200 1 215741538 splice acceptor variant C/A;T snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 4 2015 2017
dbSNP: rs878853407
rs878853407
USH2A
0.925 0.200 1 215741538 splice acceptor variant C/A;T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2015 2017
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
0.882 0.200 1 216207401 frameshift variant GT/- delins 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 4 2004 2015
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
0.882 0.200 1 216207401 frameshift variant GT/- delins 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 4 2004 2015
dbSNP: rs1003869920
rs1003869920
USH2A
0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2011 2017
dbSNP: rs1162305984
rs1162305984
USH2A ; LOC102723833
0.925 0.200 1 216084847 missense variant A/G snv 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 3 2014 2017
dbSNP: rs1162305984
rs1162305984
USH2A ; LOC102723833
0.925 0.200 1 216084847 missense variant A/G snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2014 2017
dbSNP: rs1394737087
rs1394737087
USH2A
0.925 0.200 1 216246597 stop gained G/A snv 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 3 2000 2016