rs17039192
This is a regulatory region variant variant in the EPAS1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶A large‐scale replication study for the association of rs17039192 in HIF‐2α with knee osteoarthritisAssociationN=595Masahiro Nakajima et al.(2012)· Journal of Orthopaedic Research
Candidate gene study of 4 SNPs in Russian population replicating GWAS-significant variants associated with stage 4 knee osteoarthritis. The A allele of rs6499244 in NFAT5 was identified as a risk factor for knee osteoarthritis in additive (OR=1.61, p=0.02) and recessive (OR=2.07, p=0.02) models. Functional analysis shows rs6499244 is located in DNase-hypersensitive regions and enhancers, associated with expression of 9 genes including NFAT5 itself.
About EPAS1
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
View all EPAS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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