HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: Age related macular degeneration ×
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: 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: 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: 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: 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: 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: 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
dbSNP: rs2672598
rs2672598 		0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 0.500 2 2012 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