rs398123104

A SNP in the ABCD1 gene on chromosome X. Its most notable genotype is A;A: X-linked adrenoleukodystrophy; symptoms and age of onset highly variable

Gene
ABCD1
Location
Chr X153,740,599 (GRCh38)
Highest magnitude
7.7Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadX-linked adrenoleukodystrophy; symptoms and age of onset highly variableVery important · 7.7
  2. A;CBadCarrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possibleVery important · 4.4
  3. C;CGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other ABCD1 SNPs

All ABCD1 SNPs

Notes

From SNPedia

Notes

aka c.1660C>A (p.Arg554Ser) Reported in ClinVar as pathogenic for adrenoleukodystrophy (ALD); however, this variant is not listed in the ALD Mutation Database

Source and license

Adapted from rs398123104 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.