Variant (rsID / SNP)

rs738409

rs738409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA3. Location: chromosome 22, position 44,324,727. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.

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Reference-table entries

PNPLA3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity; risk factor
Variant type: single nucleotide variant
Chromosome / position: 22:44324727
Cytoband: 22q13.31
HGVS: NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met)
Allele change: Missense_I148M

Associated conditions / phenotypes

NAFLD1

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.