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: 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: 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: 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: 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: 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
CUI: C0271084
Disease: Exudative age-related macular degeneration
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: rs2293871
rs2293871 		1.000 0.080 10 122514155 intron variant C/T snv 0.22 0.18
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: rs60401382
rs60401382 		10 122468108 intron variant C/T snv 0.32
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs72834448
rs72834448 		10 122472904 intron variant G/A snv 9.0E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs72834453
rs72834453 		10 122475710 intron variant T/G snv 0.11
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs79043147
rs79043147 		1.000 0.080 10 122473665 intron variant C/T snv 3.9E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs113993971
rs113993971 		1.000 0.200 10 122508758 stop gained C/T snv 1.6E-05 2.8E-05
CUI: C1838577
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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: rs113993970
rs113993970 		0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05
CUI: C1838577
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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: rs113993970
rs113993970 		0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs113993970
rs113993970 		0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05
CUI: C0240735
Disease: Personality Change
Personality Change 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs113993970
rs113993970 		0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 0
dbSNP: rs113993970
rs113993970 		0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554952291
rs1554952291 		1.000 10 122506778 stop gained C/T snv
CUI: C4225211
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		0.700 0
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
CUI: C1838577
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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