Variant (rsID / SNP)

rs3766503

rs3766503 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJA8. Location: chromosome 1, position 147,380,886. Clinical significance in the table: Benign.

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Reference-table entries

GJA8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:147380886
Cytoband: 1q21.2
HGVS: NM_005267.5(GJA8):c.804C>T (p.Leu268=)
Allele change: Silent

Associated conditions / phenotypes

Zonular Pulverulent Cataract|Cataract 1 multiple types

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.