Orviva

Learn · Variants · HLA-DRB1

rs3135388 HLA-DRB1

HLA-DRB1*15:01 tag SNP. Strong risk factor for multiple sclerosis (3x risk).

Curated · human-reviewed Health risk · Risk / effect allele: A · dbSNP

What is rs3135388?

rs3135388 is a single-nucleotide polymorphism (SNP) in the HLA-DRB1 gene (HLA class II DR beta 1). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as AA. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs3135388 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAelevatedHLA-DRB1*15:01 tag SNP. Strong risk factor for multiple sclerosis (3x risk).88%
AG / GAslightly elevatedCarrier of MS risk allele. Moderately increased MS risk.85%
GGtypical / lowerTypical MS risk at HLA-DRB1 locus.88%

How common is the A allele of rs3135388?

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

European15.0%
East Asian1.0%
African3.0%
South Asian5.0%
Admixed American8.0%
Global7.0%

Is rs3135388 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, 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.