Variant (rsID / SNP)

rs201106962

rs201106962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SNCA. Location: chromosome 4, position 90,749,307. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SNCAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:90749307
Cytoband: 4q22.1
HGVS: NM_000345.4(SNCA):c.150T>G (p.His50Gln)
Allele change: Missense_H50Q

Associated conditions / phenotypes

Autosomal dominant Parkinson disease 1|Parkinson Disease, Dominant|Lewy body dementia|Autosomal dominant Parkinson disease 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.