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: rs1284826852
rs1284826852
USH2A
0.925 0.200 1 215993152 frameshift variant -/A delins 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1284826852
rs1284826852
USH2A
0.925 0.200 1 215993152 frameshift variant -/A delins 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1359713084
rs1359713084
USH2A
1.000 0.080 1 216325522 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1362058696
rs1362058696
USH2A
0.882 0.200 1 215675092 stop gained A/G;T snv 8.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 0
dbSNP: rs138398671
rs138398671
USH2A
1.000 0.080 1 215674515 missense variant G/A snv 2.2E-04 2.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1414935620
rs1414935620
USH2A
0.925 0.200 1 215758594 splice donor variant C/- delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1414935620
rs1414935620
USH2A
0.925 0.200 1 215758594 splice donor variant C/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1419157426
rs1419157426
USH2A
1.000 1 215674892 missense variant C/A;T snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs143521854
rs143521854
USH2A ; LOC102723833
0.925 0.200 1 216084879 splice acceptor variant T/C snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs143521854
rs143521854
USH2A ; LOC102723833
0.925 0.200 1 216084879 splice acceptor variant T/C snv 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1461319754
rs1461319754
USH2A ; LOC102723833
0.925 0.200 1 216084747 stop gained C/T snv 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1461319754
rs1461319754
USH2A ; LOC102723833
0.925 0.200 1 216084747 stop gained C/T snv 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs146733615
rs146733615
USH2A
0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.700 0
dbSNP: rs146733615
rs146733615
USH2A
0.851 0.200 1 215640723 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1484339054
rs1484339054
USH2A
0.925 0.200 1 216421950 frameshift variant A/- delins 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1484339054
rs1484339054
USH2A
0.925 0.200 1 216421950 frameshift variant A/- delins 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs150230450
rs150230450
USH2A
1.000 0.080 1 216046523 missense variant G/C snv 2.3E-04 1.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs151148854
rs151148854
USH2A
0.925 0.200 1 215675618 splice acceptor variant T/C snv 1.6E-05 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs151148854
rs151148854
USH2A
0.925 0.200 1 215675618 splice acceptor variant T/C snv 1.6E-05 2.1E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
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: 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: 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: 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