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: 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: 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: rs1253615192
rs1253615192 		0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1326505941
rs1326505941 		1.000 0.040 10 122489474 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2293870
rs2293870 		0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32
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 0.010 1.000 1 2008 2008
dbSNP: rs2293870
rs2293870 		0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2016 2016
dbSNP: rs2293870
rs2293870 		0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2009 2009
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: rs2672598
rs2672598 		0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49
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 0.010 1.000 1 2016 2016
dbSNP: rs2672598
rs2672598 		0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2009 2009
dbSNP: rs2672598
rs2672598 		0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2016 2016
dbSNP: rs369149111
rs369149111 		1.000 10 122461711 missense variant C/T snv 2.1E-02 9.0E-03
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2016 2016
dbSNP: rs3793917
rs3793917 		0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2010 2010
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: 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: 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: rs1253615192
rs1253615192 		0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2008 2011
dbSNP: rs2293870
rs2293870 		0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2008 2008