Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
G 0.700 CausalMutation CLINVAR Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL. 27164673

2016
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
G 0.700 CausalMutation CLINVAR Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658

2015
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
G 0.700 CausalMutation CLINVAR A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient. 25957642

2015
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
G 0.700 CausalMutation CLINVAR A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population. 25772074

2015
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
G 0.700 CausalMutation CLINVAR Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis. 25770224

2015
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
G 0.700 CausalMutation CLINVAR Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. 19387015

2009