HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781563777
rs781563777
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		0.800 GeneticVariation UNIPROT Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658 2015
dbSNP: rs781563777
rs781563777
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs864622781
rs864622781
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs864622781
rs864622781
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs864622782
rs864622782
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs864622782
rs864622782
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs772225907
rs772225907
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		0.700 GeneticVariation UNIPROT Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658 2015
dbSNP: rs1267457680
rs1267457680
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1273355332
rs1273355332
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554948318
rs1554948318
Entrez Id: 5654;105378525
Gene Symbol: HTRA1;LOC105378525
HTRA1;LOC105378525
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554950655
rs1554950655
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554952277
rs1554952277
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554952291
rs1554952291
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs201305795
rs201305795
Entrez Id: 5654;105378526
Gene Symbol: HTRA1;LOC105378526
HTRA1;LOC105378526
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs864622783
rs864622783
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
CUI: C4225211
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 		A 0.700 CausalMutation CLINVAR