rs757972971
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6.6 | Possible autism spectrum disorder genotype |
| (A;G) | 3 | Carrier of possible autism related allele |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 16 |
| Position | 87837861 |
| Gene | SLC7A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757972971 |
| dbSNP (classic) | rs757972971 |
| ClinGen | rs757972971 |
| ebi | rs757972971 |
| HLI | rs757972971 |
| Exac | rs757972971 |
| Gnomad | rs757972971 |
| Varsome | rs757972971 |
| LitVar | rs757972971 |
| Map | rs757972971 |
| PheGenI | rs757972971 |
| Biobank | rs757972971 |
| 1000 genomes | rs757972971 |
| hgdp | rs757972971 |
| ensembl | rs757972971 |
| geneview | rs757972971 |
| scholar | rs757972971 |
| rs757972971 | |
| pharmgkb | rs757972971 |
| gwascentral | rs757972971 |
| openSNP | rs757972971 |
| 23andMe | rs757972971 |
| SNPshot | rs757972971 |
| SNPdbe | rs757972971 |
| MSV3d | rs757972971 |
| GWAS Ctlg | rs757972971 |
| Max Magnitude | 6.6 |
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. dx.doi.org/10.1016/j.cell.2016.11.013
