rs2295193
This is a downstream gene variant variant in the SYNE1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association study of the estrogen receptor I gene (ESR1) in anorexia nervosa and eating disorders: No replication foundAssociationN=3,330Slof-Op 't Landt MC et al.(2014)· International Journal of Eating Disorders
This replication study tested associations between eight ESR1 SNPs and eating disorders in 520 patients with eating disorders (including 244 with anorexia nervosa) and 2,810 control women. Despite adequate statistical power, the study failed to replicate previously reported associations between an ESR1 haplotype (rs726281, rs3020407, rs17081994, rs2982712, rs3020371, rs2228480, rs3798577, rs2295193) and anorexia nervosa or eating disorders (OR previously reported as 3.1 for the haplotype), finding no significant differences in haplotype or SNP frequencies between cases and controls.
About SYNE1
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
View all SYNE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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