Source: ALL

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: rs111033415
rs111033415
MYO7A
0.925 0.200 11 77162118 splice acceptor variant A/G snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 3 2005 2016
dbSNP: rs111033426
rs111033426
MYO7A
0.925 0.200 11 77142708 splice acceptor variant G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2014 2014
dbSNP: rs1188637368
rs1188637368
MYO7A
0.925 0.200 11 77201488 frameshift variant C/- delins 8.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1191025888
rs1191025888
MYO7A
1.000 0.200 11 77213007 missense variant G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1192104600
rs1192104600
MYO7A
0.925 0.200 11 77202426 splice donor variant T/C snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1199012623
rs1199012623
MYO7A
0.882 0.200 11 77199804 frameshift variant A/- del 8.3E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2008 2012
dbSNP: rs121965080
rs121965080
MYO7A
0.925 0.200 11 77156903 missense variant C/T snv 2.1E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs121965085
rs121965085
MYO7A
0.882 0.200 11 77174816 stop gained C/T snv 1.6E-05 3.5E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 3 1999 2011
dbSNP: rs1224819887
rs1224819887
MYO7A
0.925 0.200 11 77147888 frameshift variant -/A delins 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2016 2016
dbSNP: rs1226046110
rs1226046110
MYO7A
0.925 0.200 11 77190871 splice donor variant G/C snv 5.5E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2016 2016
dbSNP: rs1253943370
rs1253943370
MYO7A
0.925 0.200 11 77189416 stop gained G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1268984037
rs1268984037
MYO7A
0.925 0.200 11 77208696 splice acceptor variant G/A snv 5.0E-06 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2007 2007
dbSNP: rs1269622956
rs1269622956
MYO7A
1.000 0.200 11 77162124 missense variant G/C snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2011 2014
dbSNP: rs1279918132
rs1279918132
MYO7A
0.925 0.200 11 77179828 stop gained C/T snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2002 2006
dbSNP: rs1296612982
rs1296612982
MYO7A
0.925 0.200 11 77181522 missense variant T/G snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1299898646
rs1299898646
MYO7A
0.925 0.200 11 77205611 frameshift variant C/- delins 1.6E-05 4.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2006 2011
dbSNP: rs1343207038
rs1343207038
MYO7A
0.925 0.200 11 77172886 splice donor variant G/C snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1397834886
rs1397834886
MYO7A
0.925 0.200 11 77208457 frameshift variant CTTT/- delins 4.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2006 2006
dbSNP: rs139889944
rs139889944
MYO7A
1.000 0.200 11 77199771 missense variant G/A snv 3.7E-03 1.2E-03
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 17 1995 2015
dbSNP: rs1403288739
rs1403288739
MYO7A
0.925 0.200 11 77208804 splice donor variant G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2013 2013
dbSNP: rs1453053718
rs1453053718
MYO7A
0.925 0.200 11 77207402 splice region variant G/A snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 4 2006 2014
dbSNP: rs1472566324
rs1472566324
MYO7A
0.925 0.200 11 77156676 missense variant G/A snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.800 1.000 6 2006 2016
dbSNP: rs1480697910
rs1480697910
MYO7A
0.925 0.200 11 77192233 frameshift variant CAGG/- delins 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555051384
rs1555051384
MYO7A
0.925 0.200 11 77142707 splice acceptor variant A/G snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 1997 2009
dbSNP: rs1555051455
rs1555051455
MYO7A
0.925 0.200 11 77142742 stop gained C/T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2016 2016