Variant (rsID / SNP)

rs74315436

rs74315436 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VSX1. Location: chromosome 20, position 25,062,683. Clinical significance in the table: Likely benign.

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Reference-table entries

VSX1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:25062683
Cytoband: 20p11.21
HGVS: NM_014588.6(VSX1):c.50T>C (p.Leu17Pro)
Allele change: Missense_L17P

Associated conditions / phenotypes

Keratoconus 1|Polymorphous corneal dystrophy

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.