Variant (rsID / SNP)

rs117730440

rs117730440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROGDI. Location: chromosome 16, position 4,847,114. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ROGDILikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:4847114
Cytoband: 16p13.3
HGVS: NM_024589.3(ROGDI):c.*347G>T
Allele change: Silent

Associated conditions / phenotypes

Amelocerebrohypohidrotic syndrome

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.