Variant (rsID / SNP)

rs1044396

rs1044396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA4. Location: chromosome 20, position 61,981,134. Clinical significance in the table: Benign.

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Reference-table entries

CHRNA4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:61981134
Cytoband: 20q13.33
HGVS: NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)
Allele change: Synonymous_S543S

Associated conditions / phenotypes

Nicotine addiction, protection against|Seizure|Autosomal dominant nocturnal frontal lobe epilepsy|Autosomal dominant nocturnal frontal lobe epilepsy 1

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.