rs398122973

A SNP in the ASNS gene on chromosome 7. Its most notable genotype is A;C: Carrier of an asparagine synthetase deficiency (ASNSD) mutation

Gene
ASNS
Location
Chr 797,855,406 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. A;CMost notableBadCarrier of an asparagine synthetase deficiency (ASNSD) mutationImportant · 3.0
  2. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs398122973 on the minus strand: (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.1084T>G (p.Phe362Val or F362V)

A;C

Unaffected in absence of a second ASNS gene mutation

Source and license

Adapted from rs398122973 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.