Variant (rsID / SNP)
rs121918219
rs121918219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VANGL1. Location: chromosome 1, position 116,224,993. Clinical significance in the table: Uncertain significance; risk factor.
Reference-table entries
VANGL1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:116224993
- Cytoband
- 1p13.1
- HGVS
- NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln)
- Allele change
- Missense_R274Q
Associated conditions / phenotypes
Neural tube defects, susceptibility to
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.