rs11722476
This variant is located in the SMARCAD1 gene.
▶ClinVar annotation
not provided; Basan syndrome; Keratoderma with scleroatrophy of the extremities; Adermatoglyphia
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of novel germline polymorphisms governing capecitabine sensitivityAssociationN=503O'Donnell PH et al.(2012)· Cancer
A genome-wide association study of capecitabine sensitivity in 503 HapMap lymphoblastoid cell lines identified novel germline variants associated with capecitabine/5-FU susceptibility. Key findings include rs4702484 (P=5.2×10⁻⁸) in ADCY2 near MTRR, and rs11722476 (P=6.7×10⁻⁵), a missense variant in SMARCAD1 (Ser158Asn). Meta-analysis across six global populations identified four SNPs approaching genome-wide significance (P=1.9×10⁻⁷–8.8×10⁻⁷), with rs8101143 (P=1.9×10⁻⁷), rs576523 (P=2.3×10⁻⁷), and rs361433 also among top hits.
About SMARCAD1
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
View all SMARCAD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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