rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
Age related macular degeneration
|
Eye Diseases
|
0.900 |
0.900 |
50 |
2006 |
2019 |
rs3793917
|
0.882 |
0.040 |
10 |
122459759 |
non coding transcript exon variant |
C/G
|
snv
|
|
0.23
|
Age related macular degeneration
|
Eye Diseases
|
0.840 |
0.833 |
6 |
2010 |
2013 |
rs2284665
|
0.882 |
0.040 |
10 |
122467114 |
intron variant |
G/A;T
|
snv
|
|
|
Age related macular degeneration
|
Eye Diseases
|
0.800 |
1.000 |
2 |
2013 |
2018 |
rs781563777
|
1.000 |
|
10 |
122488946 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06;
1.6E-05
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.800 |
1.000 |
1 |
2015 |
2015 |
rs864622781
|
1.000 |
|
10 |
122488926 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.800 |
|
0 |
|
|
rs864622782
|
1.000 |
|
10 |
122506765 |
missense variant |
C/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.800 |
|
0 |
|
|
rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
Exudative age-related macular degeneration
|
Eye Diseases
|
0.730 |
1.000 |
4 |
2008 |
2017 |
rs2672587
|
1.000 |
0.040 |
10 |
122475839 |
intron variant |
G/C;T
|
snv
|
|
|
Age related macular degeneration
|
Eye Diseases
|
0.710 |
1.000 |
3 |
2010 |
2013 |
rs113993968
|
1.000 |
0.200 |
10 |
122489603 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
2 |
2002 |
2016 |
rs113993969
|
1.000 |
0.200 |
10 |
122506802 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
2 |
2009 |
2016 |
rs932275
|
1.000 |
0.040 |
10 |
122471948 |
intron variant |
G/A
|
snv
|
|
0.24
|
Age related macular degeneration
|
Eye Diseases
|
0.710 |
1.000 |
2 |
2010 |
2013 |
rs1554950703
|
1.000 |
0.200 |
10 |
122489463 |
missense variant |
C/G
|
snv
|
|
|
Mental deterioration
|
Mental Disorders
|
0.700 |
1.000 |
6 |
2009 |
2016 |
rs1554950703
|
1.000 |
0.200 |
10 |
122489463 |
missense variant |
C/G
|
snv
|
|
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2009 |
2016 |
rs113993971
|
1.000 |
0.200 |
10 |
122508758 |
stop gained |
C/T
|
snv
|
1.6E-05
|
2.8E-05
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2009 |
2014 |
rs2253755
|
1.000 |
0.040 |
10 |
122482041 |
intron variant |
A/G;T
|
snv
|
|
|
Age related macular degeneration
|
Eye Diseases
|
0.700 |
1.000 |
2 |
2013 |
2013 |
rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
exudative macular degeneration
|
Eye Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs113993970
|
0.925 |
0.240 |
10 |
122506817 |
stop gained |
C/T
|
snv
|
8.0E-06
|
3.5E-05
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs12571363
|
|
|
10 |
122471096 |
intron variant |
C/A
|
snv
|
|
7.2E-02
|
Vital capacity
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs2248799
|
1.000 |
0.040 |
10 |
122464428 |
intron variant |
C/T
|
snv
|
|
0.51
|
Age related macular degeneration
|
Eye Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs2268344
|
1.000 |
0.040 |
10 |
122485453 |
intron variant |
T/C
|
snv
|
|
0.21
|
Coronary Artery Disease
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs2284665
|
0.882 |
0.040 |
10 |
122467114 |
intron variant |
G/A;T
|
snv
|
|
|
Exudative age-related macular degeneration
|
Eye Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs2284665
|
0.882 |
0.040 |
10 |
122467114 |
intron variant |
G/A;T
|
snv
|
|
|
exudative macular degeneration
|
Eye Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs4237540
|
1.000 |
0.040 |
10 |
122477982 |
intron variant |
A/G
|
snv
|
|
0.53
|
Coronary Artery Disease
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs4752700
|
1.000 |
0.040 |
10 |
122478096 |
intron variant |
A/G
|
snv
|
|
0.53
|
Coronary Artery Disease
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs587776445
|
1.000 |
0.200 |
10 |
122506734 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |