Variant: rs369227537 

    present in Gene: SPG7
    present in Chromosome: 16
    Position on Chromosome: 89550502
    Alleles of this Variant: A/T

rs369227537 in SPG7 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs369227537 in SPG7 gene and SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE PMID 24727571 2014 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

PMID 26756429 2016 A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

PMID 22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.