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: rs527236137
rs527236137
USH2A
0.925 0.200 1 215674901 missense variant G/A;C snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 7 2006 2015
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: rs111033263
rs111033263
USH2A
0.882 0.200 1 215799066 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2006 2014
dbSNP: rs374536346
rs374536346
USH2A
0.925 0.200 1 216418693 intron variant C/T snv 2.0E-05 4.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 6 2010 2017
dbSNP: rs374536346
rs374536346
USH2A
0.925 0.200 1 216418693 intron variant C/T snv 2.0E-05 4.2E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2010 2017
dbSNP: rs397518039
rs397518039
USH2A
0.851 0.200 1 215877882 splice acceptor variant T/C snv 3.2E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 6 2008 2015
dbSNP: rs770553471
rs770553471
USH2A
0.882 0.200 1 215648684 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2009 2017
dbSNP: rs770553471
rs770553471
USH2A
0.882 0.200 1 215648684 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 6 2009 2017
dbSNP: rs771583281
rs771583281
USH2A
0.882 0.200 1 216250898 splice region variant C/T snv 4.0E-05 8.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2002 2014
dbSNP: rs771583281
rs771583281
USH2A
0.882 0.200 1 216250898 splice region variant C/T snv 4.0E-05 8.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 6 2002 2014
dbSNP: rs773539640
rs773539640
USH2A
1.000 1 216292336 frameshift variant G/- delins 2.4E-05 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2000 2015
dbSNP: rs780308389
rs780308389
USH2A
0.882 0.200 1 216325393 missense variant G/A snv 8.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2007 2016
dbSNP: rs111033367
rs111033367
USH2A
0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 5 1998 2010
dbSNP: rs202175091
rs202175091
USH2A
0.925 0.200 1 215782070 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2009 2016
dbSNP: rs369522997
rs369522997
USH2A
0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2000 2014
dbSNP: rs371777049
rs371777049
USH2A
1.000 1 216325540 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2009 2014
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: rs527236139
rs527236139
USH2A
0.882 0.200 1 215759735 missense variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 5 2010 2016
dbSNP: rs750396156
rs750396156
USH2A
0.882 0.200 1 215675337 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2013 2016
dbSNP: rs750396156
rs750396156
USH2A
0.882 0.200 1 215675337 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 5 2013 2016
dbSNP: rs753330544
rs753330544
USH2A
0.882 0.200 1 215674595 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2010 2016
dbSNP: rs764182950
rs764182950
USH2A
0.925 0.200 1 215799050 missense variant G/A snv 4.4E-05 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 5 2014 2016
dbSNP: rs764182950
rs764182950
USH2A
0.925 0.200 1 215799050 missense variant G/A snv 4.4E-05 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2014 2016
dbSNP: rs1431048303
rs1431048303
USH2A
0.925 0.200 1 215728265 missense variant G/T snv 4.0E-06 1.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 4 2014 2017