rs139644798

A SNP in the RARS gene on chromosome 5. Its most notable genotype is T;T: hypomyelinating Leukodystrophy

Gene
RARS
Location
Chr 5168,510,601 (GRCh38)
Highest magnitude
7.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TBadCarrier of a mutation for hypomyelinating LeukodystrophyImportant · 3.0
  3. T;TMost notableBadhypomyelinating LeukodystrophyVery important · 7.0

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

Notes

From SNPedia

Notes

RARS gene, c.1367C>T (p.Ser456Leu) Minor allele is reported in ClinVar as pathogenic for hypomyelinating Leukodystrophy

C;T

Unaffected unless carrying another mutation in the RARS gene

T;T

see discussion

Source and license

Adapted from rs139644798 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.