rs4977756
rs4977756 is an intronic SNP in CDKN2B-AS1 (a long noncoding RNA, also known as ANRIL) on chromosome 9p21.3, about 59 kb telomeric to CDKN2B, with regulatory potential affecting expression and alternative splicing of the neighboring CDKN2A/CDKN2B tumor-suppressor genes rather than altering a protein sequence. It was identified in a genome-wide association study as a susceptibility locus for primary open-angle glaucoma (POAG), with the risk allele raising odds roughly 1.3- to 1.5-fold, an association strongest in populations of European ancestry. In this dataset it contributes, alongside TMCO1 rs4656461, to a polygenic glaucoma risk score.
Traits rs4977756 reads
Gene
Reference databases
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