rs202142867
A SNP in the ASL gene on chromosome 7. Its most notable genotype is C;C: Argininosuccinate lyase deficiency
- Gene
- ASL
- Location
- Chr 766,082,887 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadArgininosuccinate lyase deficiency
- C;TBadUnaffected carrier of an argininosuccinate lyase mutation
- T;TGoodcommon/normal
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ASL SNPs
- rs28940286T;TArgininosuccinate lyase deficiencyVery important
- rs28940287T;TArgininosuccinate lyase deficiencyVery important
- rs28940585T;TArgininosuccinate lyase deficiencyVery important
- rs28941472G;GArgininosuccinate lyase deficiencyVery important
- rs28941473A;AArgininosuccinate lyase deficiencyVery important
- rs138310841T;TArgininosuccinate lyase deficiencyVery important
- rs142637046A;AArgininosuccinate lyase deficiencyVery important
- rs143793815T;TArgininosuccinate lyase deficiencyVery important
Notes
From SNPedia
Notes
c.299T>C, p.Ile100Thr or I100T pathogenic for argininosuccinate lyase deficiency, according to
Source and license
Adapted from rs202142867 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.