HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11200638
rs11200638
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.900 0.900 50 2006 2019
dbSNP: rs3793917
rs3793917
0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.840 0.833 6 2010 2013
dbSNP: rs2284665
rs2284665
0.882 0.040 10 122467114 intron variant G/A;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.800 1.000 2 2013 2018
dbSNP: rs781563777
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
dbSNP: rs864622781
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
dbSNP: rs864622782
rs864622782
1.000 10 122506765 missense variant C/A snv
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
0.800 0
dbSNP: rs11200638
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
dbSNP: rs2672587
rs2672587
1.000 0.040 10 122475839 intron variant G/C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.710 1.000 3 2010 2013
dbSNP: rs113993968
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
dbSNP: rs113993969
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
dbSNP: rs932275
rs932275
1.000 0.040 10 122471948 intron variant G/A snv 0.24
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.710 1.000 2 2010 2013
dbSNP: rs1554950703
rs1554950703
1.000 0.200 10 122489463 missense variant C/G snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
Mental Disorders 0.700 1.000 6 2009 2016
dbSNP: rs1554950703
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
dbSNP: rs113993971
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
dbSNP: rs2253755
rs2253755
1.000 0.040 10 122482041 intron variant A/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.700 1.000 2 2013 2013
dbSNP: rs11200638
rs11200638
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs113993970
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
dbSNP: rs12571363
rs12571363
10 122471096 intron variant C/A snv 7.2E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs2248799
rs2248799
1.000 0.040 10 122464428 intron variant C/T snv 0.51
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2268344
rs2268344
1.000 0.040 10 122485453 intron variant T/C snv 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2284665
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
dbSNP: rs2284665
rs2284665
0.882 0.040 10 122467114 intron variant G/A;T snv
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4237540
rs4237540
1.000 0.040 10 122477982 intron variant A/G snv 0.53
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4752700
rs4752700
1.000 0.040 10 122478096 intron variant A/G snv 0.53
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs587776445
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