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: rs58257972
rs58257972
USH2A
1.000 1 215625828 missense variant T/C snv 1.3E-02 4.9E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs111033269
rs111033269
USH2A
1.000 1 215628900 missense variant C/T snv 3.1E-03; 4.0E-06 3.7E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs111033435
rs111033435
USH2A
1.000 1 215628905 missense variant C/G;T snv 8.0E-06; 3.9E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs145771342
rs145771342
USH2A
1.000 0.200 1 215628906 missense variant G/A snv 7.7E-04 5.0E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs763463859
rs763463859
USH2A
0.925 0.200 1 215628921 stop gained G/A snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs763463859
rs763463859
USH2A
0.925 0.200 1 215628921 stop gained G/A snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553248216
rs1553248216
USH2A
0.925 0.200 1 215628953 frameshift variant G/- delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2016 2016
dbSNP: rs1553248216
rs1553248216
USH2A
0.925 0.200 1 215628953 frameshift variant G/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1553248234
rs1553248234
USH2A
0.925 0.200 1 215629011 frameshift variant G/- delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2015 2015
dbSNP: rs1553248234
rs1553248234
USH2A
0.925 0.200 1 215629011 frameshift variant G/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1295968274
rs1295968274
USH2A
0.925 0.200 1 215634556 frameshift variant A/- del 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1295968274
rs1295968274
USH2A
0.925 0.200 1 215634556 frameshift variant A/- del 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2016 2016
dbSNP: rs1553249290
rs1553249290
USH2A
0.925 0.200 1 215639154 splice donor variant C/T snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553249290
rs1553249290
USH2A
0.925 0.200 1 215639154 splice donor variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249294
rs1553249294
USH2A
0.925 0.200 1 215639164 frameshift variant TAGAGGT/- del
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553249294
rs1553249294
USH2A
0.925 0.200 1 215639164 frameshift variant TAGAGGT/- del
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs757676723
rs757676723
USH2A
0.925 0.200 1 215639190 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2015 2016
dbSNP: rs757676723
rs757676723
USH2A
0.925 0.200 1 215639190 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 3 2015 2016
dbSNP: rs747160949
rs747160949
USH2A
0.925 0.200 1 215639229 frameshift variant AA/- delins 8.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs747160949
rs747160949
USH2A
0.925 0.200 1 215639229 frameshift variant AA/- delins 8.0E-06 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2016 2016
dbSNP: rs1553249311
rs1553249311
USH2A
0.925 0.200 1 215639239 splice acceptor variant C/T snv
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249311
rs1553249311
USH2A
0.925 0.200 1 215639239 splice acceptor variant C/T snv
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs781625683
rs781625683
USH2A
0.925 0.200 1 215640558 frameshift variant TT/-;TTTTTT delins 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs781625683
rs781625683
USH2A
0.925 0.200 1 215640558 frameshift variant TT/-;TTTTTT delins 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249452
rs1553249452
USH2A
0.925 0.200 1 215640611 frameshift variant CGCCCTCCGTCGGTTAACACGT/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0