Variant (rsID / SNP)

rs150310830

rs150310830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS3. Location: chromosome 9, position 3,828,355. Clinical significance in the table: Likely benign.

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Reference-table entries

GLIS3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:3828355
Cytoband: 9p24.2
HGVS: NM_001042413.2(GLIS3):c.2710G>C (p.Gly904Arg)
Allele change: Missense_G904R

Associated conditions / phenotypes

Congenital aniridia

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.