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Variant (rsID / SNP)

rs148957473

VSX1

rs148957473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VSX1. Location: chromosome 20, position 25,058,398. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VSX1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:25058398
Cytoband
20p11.21
HGVS
NM_014588.6(VSX1):c.731A>G (p.His244Arg)
Allele change
Missense_H244R

Associated conditions / phenotypes

Polymorphous corneal dystrophy|Keratoconus 1

Public references

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