Variant (rsID / SNP)

rs104886474

rs104886474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASB10. Location: chromosome 7, position 150,878,511. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASB10Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:150878511
Cytoband: 7q36.1
HGVS: NM_001142459.2(ASB10):c.619G>C (p.Val207Leu)
Allele change: Missense_V207L

Associated conditions / phenotypes

Glaucoma 1, open angle, F

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.