Variant (rsID / SNP)

rs11649804

rs11649804 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAI1. Location: chromosome 17, position 17,696,755. Clinical significance in the table: Benign.

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Reference-table entries

RAI1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:17696755
Cytoband: 17p11.2
HGVS: NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
Allele change: Missense_P165T

Associated conditions / phenotypes

Smith-Magenis syndrome|History of neurodevelopmental disorder

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.