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: rs1049331
rs1049331 		0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2013 2015
dbSNP: rs1049331
rs1049331 		0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23
CUI: C1456582
Disease: Vision Impairment and Blindness
Vision Impairment and Blindness 		0.010 1.000 1 2015 2015
dbSNP: rs1049331
rs1049331 		0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1049331
rs1049331 		0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2009 2009
dbSNP: rs1049331
rs1049331 		0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2016 2016
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: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 0.875 16 2007 2017
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.100 0.900 10 2007 2016
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.730 1.000 4 2008 2017
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.040 1.000 4 2007 2012
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C1260959
Disease: Drusen
Drusen 		0.020 0.500 2 2007 2009
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		0.010 1.000 1 2016 2016
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C1720180
Disease: Confluent drusen
Confluent drusen 		0.010 1.000 1 2007 2007
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.010 1.000 1 2007 2007
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: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C1857814
Disease: MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs11200638
rs11200638 		0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C1857813
Disease: Macular Degeneration, Age-Related, 7
Macular Degeneration, Age-Related, 7 		Eye Diseases 0.700 0
dbSNP: rs113993968
rs113993968 		1.000 0.200 10 122489603 missense variant G/A snv 4.0E-06
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 0.710 1.000 2 2002 2016
dbSNP: rs113993969
rs113993969 		1.000 0.200 10 122506802 missense variant G/A snv 7.0E-06
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 0.710 1.000 2 2009 2016
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