Variant (rsID / SNP)

rs1800002

rs1800002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RS1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_000330.4(RS1):c.472G>A (p.Asp158Asn)
Allele change: Silent

Associated conditions / phenotypes

Retinal 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.