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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 8 2010 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: 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: 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: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 6 2010 2017
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: 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: 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: 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: 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