Variant (rsID / SNP)

rs1800206

rs1800206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPARA. Location: chromosome 22, position 46,614,274. Clinical significance in the table: risk factor.

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Reference-table entries

PPARARisk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 22:46614274
Cytoband: 22q13.31
HGVS: NM_005036.6(PPARA):c.484C>G (p.Leu162Val)
Allele change: Missense_L162V

Associated conditions / phenotypes

Hyperapobetalipoproteinemia, susceptibility to

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.