Variant (rsID / SNP)

rs34192549

rs34192549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA2. Location: chromosome 1, position 16,464,489. Clinical significance in the table: Benign.

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Reference-table entries

EPHA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:16464489
Cytoband: 1p36.13
HGVS: NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg)
Allele change: Missense_G391R

Associated conditions / phenotypes

Squamous cell lung carcinoma|Cataract 6 multiple types

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.