Variant (rsID / SNP)

rs1801033

rs1801033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C6. Location: chromosome 5, position 41,199,959. Clinical significance in the table: Benign.

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Reference-table entries

C6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:41199959
Cytoband: 5p13.1
HGVS: NM_000065.5(C6):c.356C>A (p.Ala119Glu)
Allele change: Missense_A119E

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.