Variant (rsID / SNP)

rs35098198

rs35098198 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,415,690. Clinical significance in the table: Benign.

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Reference-table entries

SMPD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:6415690
Cytoband: 11p15.4
HGVS: NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)
Allele change: Synonymous_S583S

Associated conditions / phenotypes

Niemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A

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.