Variant (rsID / SNP)

rs10186193

rs10186193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH1. Location: chromosome 2, position 3,597,974. Clinical significance in the table: Benign.

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Reference-table entries

RNASEH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:3597974
Cytoband: 2p25.3
HGVS: NM_002936.6(RNASEH1):c.498A>G (p.Pro166=)
Allele change: Silent

Associated conditions / phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

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.