Variant (rsID / SNP)

rs61745273

rs61745273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC24A2. Location: chromosome 9, position 19,516,335. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC24A2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:19516335
Cytoband: 9p22.1
HGVS: NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser)
Allele change: Missense_N601S

Associated conditions / phenotypes

Abnormal retinal morphology

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.