Variant (rsID / SNP)

rs9333555

rs9333555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLH. Location: chromosome 6, position 43,581,935. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POLHBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:43581935
Cytoband: 6p21.1
HGVS: NM_006502.3(POLH):c.1783A>G (p.Met595Val)
Allele change: Missense_D571G

Associated conditions / phenotypes

Xeroderma pigmentosum variant type

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.