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: 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: 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: rs1555101858
rs1555101858
MYO7A
0.925 0.200 11 77201512 frameshift variant G/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2007 2010
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: rs397516330
rs397516330
MYO7A
0.925 0.200 11 77213858 splice acceptor variant A/G snv 2.8E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2013 2014
dbSNP: rs747656448
rs747656448
MYO7A
0.925 0.200 11 77213908 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2011 2014
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: rs782064437
rs782064437
MYO7A
0.925 0.200 11 77147796 splice acceptor variant A/C;G snv 8.3E-06 7.0E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 2012 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: rs797044510
rs797044510
MYO7A
0.925 0.200 11 77156092 splice donor variant G/A snv 1.4E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 2 1997 2016
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: rs111033187
rs111033187
MYO7A
0.925 0.200 11 77156012 frameshift variant C/-;CC delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2011 2011
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: rs111033347
rs111033347
MYO7A
0.882 0.200 11 77190709 frameshift variant A/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2007 2007
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: 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: 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: 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: 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: 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: rs1555076948
rs1555076948
MYO7A
0.925 0.200 11 77172747 splice acceptor variant G/A;T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2016 2016
dbSNP: rs1555080760
rs1555080760
MYO7A
0.925 0.200 11 77177600 frameshift variant AG/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2012 2012