Variant (rsID / SNP)

rs63750110

rs63750110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN2. Location: chromosome 1, position 227,083,249. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PSEN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:227083249
Cytoband: 1q42.13
HGVS: NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala)
Allele change: Missense_D438A

Associated conditions / phenotypes

Alzheimer disease 4|Alzheimer disease

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.