Variant (rsID / SNP)

rs3816

rs3816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS6. Location: chromosome 10, position 103,827,737. Clinical significance in the table: Benign.

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Reference-table entries

HPS6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:103827737
Cytoband: 10q24.32
HGVS: NM_024747.6(HPS6):c.*178T>G
Allele change: Silent

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 6

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.