Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
3 0.882 0.200 1 216207401 frameshift variant GT/- delins 2.1E-05 0.700 1.000 7 2004 2016
dbSNP: rs397518022
rs397518022
USH2A ; LOC102723833
2 0.925 0.200 1 216072887 splice donor variant A/G snv 2.1E-05 0.700 1.000 2 2008 2010
dbSNP: rs786200928
rs786200928
USH2A
5 0.827 0.200 1 215891198 intron variant T/C snv 4.2E-05 0.700 1.000 2 2012 2019
dbSNP: rs111033347
rs111033347
MYO7A
3 0.882 0.200 11 77190709 frameshift variant A/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1296612982
rs1296612982
MYO7A
2 0.925 0.200 11 77181522 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs397515359
rs397515359
USH1C
5 0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04 0.700 1.000 1 2000 2000
dbSNP: rs1171417339
rs1171417339
MYO7A
1 1.000 0.200 11 77181950 splice acceptor variant G/A snv 0.700 0
dbSNP: rs118203888
rs118203888
ND4 ; ND5 ; TRNS2
2 0.925 0.200 MT 12258 non coding transcript exon variant C/A snv 0.700 0
dbSNP: rs1355262412
rs1355262412
USH1C
3 0.882 0.200 11 17524446 splice donor variant CCTCCAATCCCACCTCA/- delins 7.0E-06 0.700 0
dbSNP: rs1383147250
rs1383147250
MYO7A
1 1.000 0.200 11 77213972 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1553252528
rs1553252528
USH2A
1 1.000 0.200 1 215675602 frameshift variant G/- del 0.700 0
dbSNP: rs1553257502
rs1553257502
USH2A
1 1.000 0.200 1 215741392 frameshift variant G/- del 0.700 0
dbSNP: rs1553327452
rs1553327452
USH2A
1 1.000 0.200 1 216292212 frameshift variant T/- del 0.700 0
dbSNP: rs1554090072
rs1554090072
ADGRV1
1 1.000 0.200 5 90708892 stop gained C/G snv 0.700 0
dbSNP: rs1554117973
rs1554117973
ADGRV1
1 1.000 0.200 5 90791346 missense variant G/C snv 0.700 0
dbSNP: rs1555051390
rs1555051390
MYO7A
1 1.000 0.200 11 77142707 coding sequence variant -/G delins 0.700 0
dbSNP: rs1555078942
rs1555078942
MYO7A
1 1.000 0.200 11 77174797 frameshift variant A/- del 0.700 0
dbSNP: rs1560449207
rs1560449207
PROM1
1 1.000 0.200 4 16000612 stop gained C/A snv 0.700 0
dbSNP: rs1561740143
rs1561740143
ADGRV1
1 1.000 0.200 5 90791144 stop gained C/G snv 0.700 0
dbSNP: rs1568445893
rs1568445893
ARSG
2 0.925 0.200 17 68307626 missense variant G/T snv 0.700 0
dbSNP: rs397518010
rs397518010
USH2A ; LOC105372918
1 1.000 0.200 1 216207437 splice region variant T/C snv 0.700 0
dbSNP: rs774056663
rs774056663
PCDH15
2 0.925 0.200 10 53823256 frameshift variant -/ATAGTATT delins 2.8E-05 0.700 0
dbSNP: rs876657733
rs876657733
USH2A
2 0.925 0.200 1 215877757 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs876657754
rs876657754
CDH23 ; CDH23-AS1
1 1.000 0.200 10 71511163 missense variant A/G snv 0.700 0
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.700 1.000 1 2019 2019