Variant (rsID / SNP)

rs63750363

rs63750363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APP. Location: chromosome 21, position 27,269,954. Clinical significance in the table: Uncertain significance.

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Reference-table entries

APPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:27269954
Cytoband: 21q21.3
HGVS: NM_000484.4(APP):c.1995G>C (p.Glu665Asp)
Allele change: Missense_E609D

Associated conditions / phenotypes

Alzheimer disease type 1

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.