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: rs1555100603
rs1555100603
MYO7A
0.925 0.200 11 77199792 frameshift variant -/G delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555100625
rs1555100625
MYO7A
0.925 0.200 11 77199808 frameshift variant C/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555102041
rs1555102041
MYO7A
0.925 0.200 11 77201606 frameshift variant C/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555102147
rs1555102147
MYO7A
0.925 0.200 11 77201639 splice donor variant G/T snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555103458
rs1555103458
MYO7A
0.925 0.200 11 77203119 frameshift variant G/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555103532
rs1555103532
MYO7A
0.925 0.200 11 77203150 frameshift variant G/- del
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555105118
rs1555105118
MYO7A
0.925 0.200 11 77205461 splice acceptor variant G/C snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555105135
rs1555105135
MYO7A
0.925 0.200 11 77205468 frameshift variant -/G delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555105202
rs1555105202
MYO7A
0.925 0.200 11 77205523 frameshift variant A/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555106609
rs1555106609
MYO7A
0.925 0.200 11 77207343 frameshift variant A/- del
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555107286
rs1555107286
MYO7A
0.925 0.200 11 77208428 splice acceptor variant A/G snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555107555
rs1555107555
MYO7A
0.925 0.200 11 77208706 frameshift variant -/TCAC delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs1555109612
rs1555109612
MYO7A
0.925 0.200 11 77211819 splice acceptor variant A/C snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs377267777
rs377267777
MYO7A
1.000 0.200 11 77204183 missense variant G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs397516283
rs397516283
MYO7A
0.925 0.200 11 77160283 splice donor variant G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs397516315
rs397516315
MYO7A
0.925 0.200 11 77199787 stop gained T/A;G snv 4.1E-06; 4.1E-06
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs727503329
rs727503329
MYO7A
1.000 0.200 11 77190838 missense variant G/A snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs749747871
rs749747871
MYO7A
1.000 0.200 11 77190808 missense variant G/C snv 2.8E-05 5.6E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs750647872
rs750647872
MYO7A
0.851 0.200 11 77192132 stop gained C/T snv 3.2E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs775792432
rs775792432
MYO7A
0.925 0.200 11 77199534 splice acceptor variant G/A snv 8.9E-06 1.4E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs782077721
rs782077721
MYO7A
1.000 0.200 11 77162914 frameshift variant -/C delins 1.4E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs782292032
rs782292032
MYO7A
0.925 0.200 11 77147952 splice donor variant T/C;G snv
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs782350886
rs782350886
MYO7A
1.000 0.200 11 77184703 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs782468194
rs782468194
MYO7A
0.925 0.200 11 77183080 stop gained G/A;C;T snv 6.5E-06; 1.3E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0
dbSNP: rs782539587
rs782539587
MYO7A
0.925 0.200 11 77161030 stop gained A/T snv 1.6E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 0