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: rs368049814
rs368049814
USH2A
0.851 0.200 1 215786715 missense variant C/T snv 3.6E-05 7.7E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 28 1998 2017
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: rs111033263
rs111033263
USH2A
0.882 0.200 1 215799066 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 25 1998 2014
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: rs111033264
rs111033264
USH2A
0.882 0.200 1 215782762 missense variant A/G snv 2.4E-05 6.3E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 23 1998 2016
dbSNP: rs111033273
rs111033273
USH2A
0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 23 1998 2016
dbSNP: rs111033280
rs111033280
USH2A
0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 23 1998 2015
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: rs369522997
rs369522997
USH2A
0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 23 1998 2014
dbSNP: rs80338902
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 22 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: rs121912600
rs121912600
USH2A
0.925 0.200 1 216324240 missense variant C/A snv 4.0E-05 7.7E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 21 1998 2013
dbSNP: rs1393503590
rs1393503590
USH2A
1.000 0.200 1 216323474 missense variant C/G snv 4.0E-06 7.0E-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: rs41302239
rs41302239
USH2A
1.000 0.200 1 216070292 missense variant G/C snv 8.4E-04 8.1E-04
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: rs758303489
rs758303489
USH2A
1.000 0.200 1 216325447 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 21 1998 2013
dbSNP: rs111033262
rs111033262
USH2A
1.000 0.200 1 215878965 missense variant A/G snv 8.3E-04 3.0E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs111033275
rs111033275
USH2A
0.925 0.200 1 215675568 missense variant G/A snv 3.1E-04 5.4E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs111033381
rs111033381
USH2A
1.000 0.200 1 215674614 missense variant C/A snv 1.9E-02 1.9E-02
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs111033450
rs111033450
USH2A
1.000 0.200 1 216000541 missense variant T/C snv 5.9E-04 7.5E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013
dbSNP: rs113447586
rs113447586
USH2A
1.000 0.200 1 215650602 missense variant G/T snv 2.1E-03 8.1E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 20 1998 2013