rs143793815

A SNP in the ASL gene on chromosome 7. Its most notable genotype is T;T: Argininosuccinate lyase deficiency

Gene
ASL
Location
Chr 766,083,120 (GRCh38)
Highest magnitude
8.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TBadUnaffected carrier of an argininosuccinate lyase mutationImportant · 3.0
  3. T;TMost notableBadArgininosuccinate lyase deficiencyVery important · 8.0

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

Conditions, medicines and genes

Other ASL SNPs

All ASL SNPs

Notes

From SNPedia

Notes

c.392C>T, p.Thr131Met or T131M Considered pathogenic for argininosuccinate lyase deficiency, according to , however, it is listed in ClinVar as of uncertain pathogenicity, presumably due to having a (slightly) higher population frequency than expected for a pathogenic allele.

T;T

see discussion at rs143793815 about uncertainty over pathogenicity

Source and license

Adapted from rs143793815 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.