Variant (rsID / SNP)

rs939336

rs939336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC5. Location: chromosome 3, position 183,685,534. The table records no clinical significance for this variant.

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Reference-table entries

ABCC5Not classified

Variant type: synonymous_variant
Chromosome / position: 3:183685534
HGVS: NM_005688.4,c.1782T>C,p.Cys594Cys
Allele change: Synonymous_C122C

Associated conditions / phenotypes

Primary Angle-Closure Glaucoma|Intraocular Pressure Quantitative Trait Locus

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.