Variant: rs1554950703 

    present in Gene: LOC105378526;HTRA1
    present in Chromosome: 10
    Position on Chromosome: 122489463
    Alleles of this Variant: C/G

rs1554950703 in LOC105378526;HTRA1 gene and Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

PMID 25772074 2015 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

PMID 26063658 2015 Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

PMID 25770224 2015 Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis.

PMID 25957642 2015 A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.

PMID 27164673 2016 Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.

rs1554950703 in LOC105378526;HTRA1 gene and Mental deterioration PMID 25957642 2015 A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.

PMID 26063658 2015 Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

PMID 27164673 2016 Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.

PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

PMID 25772074 2015 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

PMID 25770224 2015 Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis.