Variant (rsID / SNP)

rs5370

rs5370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDN1. Location: chromosome 6, position 12,296,255. Clinical significance in the table: Benign.

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Reference-table entries

EDN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:12296255
Cytoband: 6p24.1
HGVS: NM_001955.5(EDN1):c.594G>T (p.Lys198Asn)
Allele change: Missense_K197N

Associated conditions / phenotypes

High density lipoprotein cholesterol level quantitative trait locus 7|Auriculocondylar syndrome 3

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.