Variant (rsID / SNP)

rs1051740

rs1051740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHX1. Location: chromosome 1, position 226,019,633. Clinical significance in the table: Benign.

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Reference-table entries

EPHX1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:226019633
Cytoband: 1q42.12
HGVS: NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His)
Allele change: Missense_Y113H

Associated conditions / phenotypes

EPOXIDE HYDROLASE 1 POLYMORPHISM|Cystic fibrosis

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.