Variant (rsID / SNP)
rs118069986
rs118069986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGV. Location: chromosome 1, position 27,114,484. Clinical significance in the table: Benign.
Reference-table entries
PIGVBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:27114484
- Cytoband
- 1p36.11
- HGVS
- NM_017837.4(PIGV):c.-333C>T
- Allele change
- Silent
Associated conditions / phenotypes
Hyperphosphatasia with intellectual disability syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.