rs377280518

A SNP in the ARG1 gene on chromosome 6. Its most notable genotype is A;A: Argininemia/Hyperargininemia (predicted)

Gene
ARG1
Location
Chr 6131,583,862 (GRCh38)
Highest magnitude
6.9Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadArgininemia/Hyperargininemia (predicted)Very important · 6.9
  2. A;GBadCarrier of an argininemia mutationImportant · 3.0
  3. G;GGoodcommon/normalTypical · 0.0

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

Notes

From SNPedia

Notes

rs377280518, also known as c.G923A, c.1002G>A, Arg308Gln or R308Q, represents a variant in the ARG1 gene on chromosome 6. Two publications have implicated the rs377280518(A) allele as a recessive mutation associated with argininemia (also known as hyperargininemia; OMIM 207800).,

A;A

See discussion and links via main rs-page

A;G

Unaffected in absence of a second mutation in the ARG1 gene; see text and links via main rs-page.

Source and license

Adapted from rs377280518 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.