Variant (rsID / SNP)

rs72470545

rs72470545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HTRA2. Location: chromosome 2, position 74,759,825. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HTRA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:74759825
Cytoband: 2p13.1
HGVS: NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)
Allele change: Silent

Associated conditions / phenotypes

Parkinson disease 13, autosomal dominant, susceptibility to

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.