Variant (rsID / SNP)

rs2244380

rs2244380 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPTN. Location: chromosome 10, position 13,158,262. Clinical significance in the table: Benign.

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Reference-table entries

OPTNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:13158262
Cytoband: 10p13
HGVS: NM_001008212.2(OPTN):c.553-5C>T
Allele change: Silent

Associated conditions / phenotypes

Primary open angle glaucoma|Amyotrophic lateral sclerosis type 12|Primary open angle glaucoma|Amyotrophic lateral sclerosis type 12|Glaucoma 1, open angle, E

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.