rs12740374
rs12740374 is a common G/T marker at the CELSR2-PSRC1-SORT1 locus on chromosome 1p13, at GRCh38 1:109274968. The T allele creates a C/EBP transcription-factor binding site and alters SORT1 expression in liver, and fine-mapping in European and African-American samples identified it as the likely functional variant at the locus. In the Global Lipids Genetics Consortium each T copy was linked to about 0.15 SD lower measured LDL cholesterol, with the same direction reaching genome-wide significance separately in European, African, East Asian, Hispanic/Latino and South Asian participants. The marker does not measure a sortilin level and cannot give a person's LDL number.
Traits rs12740374 reads
Gene
Reference databases
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