Variant (rsID / SNP)

rs2681092

rs2681092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS3, CP. Location: chromosome 3, position 148,885,077. Clinical significance in the table: Benign.

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Reference-table entries

HPS3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:148885077
Cytoband: 3q24
HGVS: NM_032383.5(HPS3):c.2796+50C>T
Allele change: Silent

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 3

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.