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rs4833103 BNC2

BNC2 variant. Associated with skin pigmentation variation and freckling in European populations.

Curated · human-reviewed Ancestry · Risk / effect allele: T · dbSNP

What is rs4833103?

rs4833103 is a single-nucleotide polymorphism (SNP) in the BNC2 gene (Basonuclin 2). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as TT. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs4833103 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
TTtypical / lowerBNC2 variant. Associated with skin pigmentation variation and freckling in European populations.72%
CT / TCtypical / lowerIntermediate pigmentation signal.68%
CCtypical / lowerAncestral BNC2 variant.72%

How common is the T allele of rs4833103?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European55.0%
East Asian10.0%
African5.0%
South Asian25.0%
Admixed American35.0%
Global25.0%

Is rs4833103 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V4, 23andMe V5, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.