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: rs397517963
rs397517963
USH2A
0.882 0.200 1 216325448 missense variant G/A;C snv 5.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 26 1998 2016
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: rs111033439
rs111033439
USH2A
1.000 0.200 1 215782738 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 21 1998 2013
dbSNP: rs1423536179
rs1423536179
USH2A
1.000 0.200 1 216323634 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 21 1998 2013
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: rs199851839
rs199851839
USH2A
1.000 0.200 1 215648726 missense variant A/C snv 8.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 21 1998 2013
dbSNP: rs750687826
rs750687826
USH2A
1.000 0.200 1 215888437 missense variant C/T snv 8.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 21 1998 2013
dbSNP: rs121912599
rs121912599
USH2A
0.925 0.200 1 216325492 missense variant C/T snv 6.0E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 20 1998 2013
dbSNP: rs1453306308
rs1453306308
USH2A
1.000 0.200 1 215837992 missense variant T/C snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs201863550
rs201863550
USH2A
1.000 0.200 1 215879068 missense variant C/T snv 2.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs397518026
rs397518026
USH2A
0.882 0.200 1 216365084 missense variant A/C;T snv 4.0E-06; 3.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs527236137
rs527236137
USH2A
0.925 0.200 1 215674901 missense variant G/A;C snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 20 1998 2013
dbSNP: rs56136489
rs56136489
USH2A
1.000 0.200 1 215647560 missense variant G/A;T snv 1.1E-03; 1.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs730254
rs730254
USH2A
1.000 0.200 1 215674202 missense variant C/G;T snv 1.9E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs745371873
rs745371873
USH2A
1.000 0.200 1 215675216 missense variant G/C;T snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs750651679
rs750651679
USH2A
1.000 0.200 1 216324352 missense variant C/A;T snv 8.2E-06; 4.1E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs768893227
rs768893227
USH2A
1.000 0.200 1 215674451 missense variant T/C snv 8.0E-06
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: 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 14 2000 2016
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: rs1212098704
rs1212098704
USH2A
1.000 1 216247179 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013
dbSNP: rs139474806
rs139474806
USH2A
1.000 1 215674572 missense variant T/A;C snv 1.2E-05; 1.2E-04
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 10 2000 2013