rs1403669200
|
1.000 |
0.160 |
16 |
1592504 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2012 |
2017 |
rs199826737
|
0.925 |
0.160 |
16 |
1571494 |
missense variant |
C/T
|
snv
|
1.3E-04
|
9.1E-05
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2012 |
2017 |
rs201188361
|
0.925 |
0.240 |
16 |
1592176 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
4.8E-05
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2012 |
2017 |
rs387907192
|
0.925 |
0.160 |
16 |
1564074 |
missense variant |
C/T
|
snv
|
4.0E-06
|
3.5E-05
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2012 |
2017 |
rs387907193
|
1.000 |
0.160 |
16 |
1587275 |
missense variant |
T/C
|
snv
|
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2012 |
2017 |
rs431905520
|
1.000 |
0.160 |
16 |
1518320 |
missense variant |
A/G
|
snv
|
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs431905521
|
0.882 |
0.320 |
16 |
1587961 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs373111085
|
1.000 |
0.160 |
16 |
1568260 |
missense variant |
C/T
|
snv
|
3.6E-05
|
2.8E-05
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2012 |
2017 |
rs1085307074
|
1.000 |
0.160 |
16 |
1584409 |
frameshift variant |
C/-
|
delins
|
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs140039128
|
1.000 |
0.160 |
16 |
1583369 |
stop gained |
C/T
|
snv
|
8.8E-05
|
5.6E-05
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1417500285
|
0.925 |
0.240 |
16 |
1562007 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1423102192
|
1.000 |
0.160 |
16 |
1526594 |
non coding transcript exon variant |
C/T
|
snv
|
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555486629
|
1.000 |
0.160 |
16 |
1558056 |
stop gained |
G/A
|
snv
|
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555491448
|
0.925 |
0.160 |
16 |
1584257 |
missense variant |
A/G
|
snv
|
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs376586707
|
0.925 |
0.160 |
16 |
1557934 |
splice donor variant |
C/A
|
snv
|
5.6E-05
|
5.6E-05
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs431905506
|
1.000 |
0.160 |
16 |
1587975 |
frameshift variant |
TCAA/-
|
delins
|
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587776909
|
0.925 |
0.240 |
16 |
1520004 |
frameshift variant |
-/C
|
delins
|
|
3.5E-05
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764770536
|
0.925 |
0.320 |
16 |
1524551 |
splice donor variant |
C/A
|
snv
|
4.1E-06
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs773372123
|
0.851 |
0.160 |
16 |
1587209 |
missense variant |
C/T
|
snv
|
2.0E-05
|
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs8058674
|
1.000 |
0.160 |
16 |
1587997 |
missense variant |
G/A
|
snv
|
4.8E-03
|
1.9E-02
|
Mainzer-Saldino Disease
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|