Variant (rsID / SNP)

rs114000606

rs114000606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBIAD1, MTOR. Location: chromosome 1, position 11,333,812. Clinical significance in the table: Benign.

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Reference-table entries

UBIAD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:11333812
Cytoband: 1p36.22
HGVS: NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe)
Allele change: Missense_S75F

Associated conditions / phenotypes

Schnyder crystalline corneal dystrophy

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.