HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: Polypoidal choroidal vasculopathy ×
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: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.100 0.900 10 2007 2016
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: 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: 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