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: rs111033198
rs111033198
MYO7A
0.925 0.200 11 77211170 stop gained C/T snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 3 2009 2012
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: rs41298133
rs41298133
MYO7A
0.882 0.200 11 77156969 stop gained C/T snv 3.6E-05 3.5E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 3 2011 2016
dbSNP: rs111033180
rs111033180
MYO7A
0.882 0.200 11 77172850 stop gained C/A;T snv 1.4E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 1998 2009
dbSNP: rs111033182
rs111033182
MYO7A
0.925 0.200 11 77202357 stop gained C/T snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2006 2012
dbSNP: rs111033192
rs111033192
MYO7A
1.000 0.200 11 77207370 stop gained G/A;T snv 4.1E-06; 1.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2011 2012
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: rs35689081
rs35689081
MYO7A
0.851 0.200 11 77142783 stop gained C/A;T snv 3.7E-05; 3.6E-03
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 1999 2009
dbSNP: rs766641715
rs766641715
MYO7A
0.882 0.200 11 77192243 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2006 2011
dbSNP: rs773945008
rs773945008
MYO7A
0.925 0.200 11 77211904 stop gained G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2014 2016
dbSNP: rs782694195
rs782694195
MYO7A
0.925 0.200 11 77189434 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2011 2014
dbSNP: rs1052030
rs1052030
MYO7A
0.925 0.200 11 77142737 stop gained T/A;C snv 0.39
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 1999 1999
dbSNP: rs1057517857
rs1057517857
MYO7A
0.882 0.200 11 77190113 stop gained C/T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2010 2010
dbSNP: rs111033201
rs111033201
MYO7A
0.851 0.200 11 77174825 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2011 2011
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
dbSNP: rs1555082145
rs1555082145
MYO7A
0.925 0.200 11 77179123 stop gained C/A;T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2013 2013
dbSNP: rs201892914
rs201892914
MYO7A
0.925 0.200 11 77179085 stop gained C/T snv 8.3E-06 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2007 2007
dbSNP: rs376535635
rs376535635
MYO7A
0.925 0.200 11 77182577 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2014 2014
dbSNP: rs376764423
rs376764423
MYO7A
0.925 0.200 11 77208472 stop gained C/T snv 1.2E-05 2.1E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2013 2013
dbSNP: rs773844428
rs773844428
MYO7A
0.925 0.200 11 77208720 stop gained C/T snv 9.6E-06 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2007 2007
dbSNP: rs781951909
rs781951909
MYO7A
0.925 0.200 11 77162889 stop gained C/T snv 1.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2008 2008
dbSNP: rs782131913
rs782131913
MYO7A
0.925 0.200 11 77181563 stop gained G/A;T snv 8.1E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 1999 1999
dbSNP: rs878864531
rs878864531
MYO7A
0.925 0.200 11 77205562 stop gained C/T snv 8.1E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2016 2016
dbSNP: rs1060499801
rs1060499801
MYO7A
0.925 0.200 11 77211296 stop gained C/T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
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