Variant (rsID / SNP)

rs2076212

rs2076212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA3. Location: chromosome 22, position 44,322,970. Clinical significance in the table: Benign.

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Reference-table entries

PNPLA3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:44322970
Cytoband: 22q13.31
HGVS: NM_025225.3(PNPLA3):c.343G>T (p.Gly115Cys)
Allele change: Missense_G115C

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.