Variant (rsID / SNP)
rs1138714
rs1138714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA2. Location: chromosome 11, position 825,110. Clinical significance in the table: Benign.
Reference-table entries
PNPLA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:825110
- Cytoband
- 11p15.5
- HGVS
- NM_020376.4(PNPLA2):c.*248A>G
- Allele change
- Silent
Associated conditions / phenotypes
Neutral lipid storage myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.