Variant (rsID / SNP)

rs61730974

rs61730974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOC. Location: chromosome 1, position 171,605,539. Clinical significance in the table: Benign.

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Reference-table entries

MYOCBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:171605539
Cytoband: 1q24.3
HGVS: NM_000261.2(MYOC):c.1041T>C (p.Tyr347=)
Allele change: Synonymous_Y347Y

Associated conditions / phenotypes

Glaucoma|Glaucoma 1, open angle, A|Glaucoma of childhood

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.