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: rs111033403
rs111033403
MYO7A
1.000 0.200 11 77156018 missense variant C/A;G;T snv 4.8E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 17 1995 2015
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: rs375050157
rs375050157
MYO7A
1.000 0.200 11 77182575 missense variant T/A;C;G snv 1.2E-05; 4.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 17 1995 2015
dbSNP: rs397516332
rs397516332
MYO7A
0.925 0.200 11 77214608 missense variant G/A;T snv 5.2E-06; 1.0E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 17 1995 2015
dbSNP: rs763469001
rs763469001
MYO7A
1.000 0.200 11 77192155 missense variant G/C;T snv 4.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 17 1995 2015
dbSNP: rs782174733
rs782174733
MYO7A
1.000 0.200 11 77177627 missense variant C/T snv 2.1E-05 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 17 1995 2015
dbSNP: rs111033174
rs111033174
MYO7A
0.925 0.200 11 77156683 missense variant C/T snv 2.8E-05; 2.4E-05 1.4E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs111033233
rs111033233
MYO7A
1.000 0.200 11 77181589 missense variant G/A;T snv 4.0E-06; 8.1E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs111033286
rs111033286
MYO7A
1.000 0.200 11 77162146 missense variant C/T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs111033287
rs111033287
MYO7A
1.000 0.200 11 77203118 missense variant C/A;G;T snv 2.8E-04; 6.5E-06; 1.9E-03; 1.3E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
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: rs368341987
rs368341987
MYO7A
1.000 0.200 11 77179843 missense variant G/A snv 1.2E-03 3.1E-04
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs369125667
rs369125667
MYO7A
1.000 0.200 11 77142767 missense variant C/A;T snv 4.1E-06; 1.6E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs373169422
rs373169422
MYO7A
1.000 0.200 11 77192105 missense variant G/A;C snv 1.2E-05; 1.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs781988557
rs781988557
MYO7A
1.000 0.200 11 77181548 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 15 1995 2015
dbSNP: rs755934966
rs755934966
MYO7A
0.882 0.200 11 77208780 missense variant G/A snv 1.1E-05 6.3E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 5 2009 2016
dbSNP: rs1057517774
rs1057517774
MYO7A
0.925 0.200 11 77162845 splice region variant C/G snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 4 1996 2011
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: rs878853236
rs878853236
MYO7A
0.882 0.200 11 77174789 missense variant C/T snv 4.2E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 4 2014 2016
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: 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: 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: rs1555090171
rs1555090171
MYO7A
0.925 0.200 11 77189343 splice acceptor variant G/C snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 3 2005 2013
dbSNP: rs1555096223
rs1555096223
MYO7A
0.925 0.200 11 77194496 frameshift variant C/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 3 2006 2016
dbSNP: rs397516281
rs397516281
MYO7A
0.925 0.200 11 77160179 missense variant T/C snv 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 3 2007 2016