Variant (rsID / SNP)

rs12740374

rs12740374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SORT1, CELSR2. Location: chromosome 1, position 109,817,590. Clinical significance in the table: association.

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Reference-table entries

SORT1Association

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 1:109817590
Cytoband: 1p13.3
HGVS: NM_001408.3(CELSR2):c.*919G>T
Allele change: Silent

Associated conditions / phenotypes

Low density lipoprotein cholesterol level quantitative trait locus 6

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.