rs757972971

A SNP in the SLC7A5 gene on chromosome 16. Its most notable genotype is A;A: Possible autism spectrum disorder genotype

Gene
SLC7A5
Location
Chr 1687,837,861 (GRCh38)
Highest magnitude
6.6Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadPossible autism spectrum disorder genotypeVery important · 6.6
  2. A;GBadCarrier of possible autism related alleleImportant · 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.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs757972971, also known as P375L or Pro375Leu, represents a very rare variant in the SLC7A5 gene on chromosome 16. The rs757972971(A) allele has been reported to be associated with autism based on a 2016 publication in which one family out of 2,000 (with autistic children) was found to harbor this allele in homozygous form in multiple affected children. Functional studies in mice provided evidence of the importance of SLC7A5 to brain function.

A;A

see discussion at rs757972971 and SLC7A5

A;G

see discussion at rs757972971 and SLC7A5

Source and license

Adapted from rs757972971 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.