rs1800440
|
0.653 |
0.440 |
2 |
38070996 |
missense variant |
T/C;G
|
snv
|
0.15;
4.0E-06
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs57865060
|
0.827 |
0.160 |
2 |
38074704 |
missense variant |
C/T
|
snv
|
1.1E-02
|
5.7E-03
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs79204362
|
0.763 |
0.120 |
2 |
38071251 |
missense variant |
C/T
|
snv
|
5.8E-03
|
1.7E-03
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.030 |
1.000 |
3 |
2003 |
2015 |
rs9282671
|
0.851 |
0.120 |
2 |
38075148 |
missense variant |
A/T
|
snv
|
3.6E-03
|
3.6E-03
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
< 0.001 |
1 |
2019 |
2019 |
rs28936700
|
0.776 |
0.120 |
2 |
38075207 |
missense variant |
C/G;T
|
snv
|
5.0E-06;
3.2E-04
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.060 |
0.833 |
6 |
2002 |
2019 |
rs55989760
|
0.882 |
0.120 |
2 |
38071195 |
missense variant |
C/G;T
|
snv
|
2.9E-04
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs72549387
|
0.790 |
0.120 |
2 |
38075218 |
stop gained |
C/G;T
|
snv
|
1.7E-04
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs56010818
|
0.925 |
0.120 |
2 |
38071185 |
missense variant |
C/T
|
snv
|
9.2E-05
|
7.7E-05
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs72549379
|
0.925 |
0.120 |
2 |
38071264 |
missense variant |
C/T
|
snv
|
1.6E-05
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1272655298
|
1.000 |
0.120 |
2 |
38074527 |
missense variant |
C/G;T
|
snv
|
4.3E-06;
8.6E-06
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs72481807
|
1.000 |
0.120 |
2 |
38074872 |
stop gained |
C/A;T
|
snv
|
6.9E-06;
6.9E-06
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs104893622
|
0.925 |
0.120 |
2 |
38071234 |
missense variant |
C/T
|
snv
|
|
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs104893623
|
0.925 |
0.120 |
2 |
38075219 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs2567206
|
0.827 |
0.200 |
2 |
38076389 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
Primary congenital glaucoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |