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Variant (rsID / SNP)

rs148944108

SMPD1

rs148944108 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,412,736. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMPD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:6412736
Cytoband
11p15.4
HGVS
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
Allele change
Synonymous_V147V

Associated conditions / phenotypes

Niemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.