rs1554329068
|
|
1.000 |
0.240 |
7 |
5527759 |
stop gained
|
T/A
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs368352689
|
|
1.000 |
0.240 |
7 |
5527786 |
missense variant
|
C/G;T
|
snv
|
4.0E-06
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs1554329113
|
|
1.000 |
0.240 |
7 |
5527863 |
missense variant
|
G/A
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs769182426
|
|
1.000 |
|
7 |
5528100 |
missense variant
|
G/A;C
|
snv
|
8.0E-06
|
|
Dysmorphic features
|
0.700 |
1.000 |
10 |
1999 |
2017 |
rs769182426
|
|
1.000 |
|
7 |
5528100 |
missense variant
|
G/A;C
|
snv
|
8.0E-06
|
|
Multiple congenital anomalies
|
0.700 |
1.000 |
10 |
1999 |
2017 |
rs1554329269
|
|
1.000 |
0.240 |
7 |
5528281 |
missense variant
|
C/G
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs587779777
|
|
1.000 |
0.240 |
7 |
5528458 |
missense variant
|
C/T
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587779776
|
|
1.000 |
0.240 |
7 |
5528472 |
missense variant
|
G/C
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs281875334
|
|
1.000 |
0.240 |
7 |
5528496 |
missense variant
|
C/T
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs281875333
|
|
1.000 |
0.240 |
7 |
5528497 |
missense variant
|
G/A;T
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.800 |
1.000 |
2 |
2012 |
2015 |
rs104894003
|
|
0.827 |
0.320 |
7 |
5528536 |
missense variant
|
G/A
|
snv
|
|
|
Dysmorphic features
|
0.700 |
1.000 |
10 |
1999 |
2017 |
rs104894003
|
|
0.827 |
0.320 |
7 |
5528536 |
missense variant
|
G/A
|
snv
|
|
|
Juvenile-onset dystonia
|
0.800 |
1.000 |
2 |
2002 |
2006 |
rs104894003
|
|
0.827 |
0.320 |
7 |
5528536 |
missense variant
|
G/A
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs797044950
|
|
1.000 |
|
7 |
5528546 |
missense variant
|
G/A;C
|
snv
|
|
|
Dysmorphic features
|
0.700 |
1.000 |
10 |
1999 |
2017 |
rs1554329331
|
|
1.000 |
0.240 |
7 |
5528556 |
missense variant
|
A/G
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs587779775
|
|
1.000 |
0.240 |
7 |
5528637 |
missense variant
|
G/A
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587779774
|
|
1.000 |
0.240 |
7 |
5529165 |
missense variant
|
G/A
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587779773
|
|
1.000 |
0.240 |
7 |
5529168 |
missense variant
|
A/G
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs765265404
|
|
1.000 |
0.240 |
7 |
5529173 |
missense variant
|
C/A;T
|
snv
|
2.0E-05
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs765265404
|
|
1.000 |
0.240 |
7 |
5529173 |
missense variant
|
C/A;T
|
snv
|
2.0E-05
|
|
Poor school performance
|
0.700 |
|
0 |
|
|
rs1554329516
|
|
1.000 |
0.240 |
7 |
5529174 |
missense variant
|
T/A
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs397515470
|
|
0.925 |
0.280 |
7 |
5529175 |
missense variant
|
C/T
|
snv
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1554329523
|
|
1.000 |
0.240 |
7 |
5529195 |
frameshift variant
|
A/-
|
del
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs1554329546
|
|
1.000 |
0.240 |
7 |
5529253 |
inframe deletion
|
AAG/-
|
delins
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.700 |
|
0 |
|
|
rs1554329552
|
|
1.000 |
|
7 |
5529265 |
missense variant
|
G/C
|
snv
|
|
|
Dysmorphic features
|
0.700 |
1.000 |
10 |
1999 |
2017 |