rs72552725

A SNP in the LOC553103 gene on chromosome 5. Its most notable genotype is G;G: Systemic primary carnitine deficiency (predicted)

Gene
LOC553103
Location
Chr 5132,370,067 (GRCh38)
Highest magnitude
7.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a systemic carnitine deficiency mutationImportant · 3.0
  3. G;GMost notableBadSystemic primary carnitine deficiency (predicted)Very important · 7.0

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

Other LOC553103 SNPs

All LOC553103 SNPs

Notes

From SNPedia

Notes

aka c.95A>G (p.Asn32Ser or N32S)

A;G

Unaffected in absence of a second SLC22A5 gene mutation

G;G

G/G homozygotes suffer from systemic primary carnitine deficiency, an autosomal recessive Mendelian disease that can lead to early death (if untreated).

Source and license

Adapted from rs72552725 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.