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rs757972971

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position87837861
GeneSLC7A5
is asnp
is mentioned by
dbSNPrs757972971
dbSNP (classic)rs757972971
ClinGenrs757972971
ebirs757972971
HLIrs757972971
Exacrs757972971
Gnomadrs757972971
Varsomers757972971
LitVarrs757972971
Maprs757972971
PheGenIrs757972971
Biobankrs757972971
1000 genomesrs757972971
hgdprs757972971
ensemblrs757972971
geneviewrs757972971
scholarrs757972971
googlers757972971
pharmgkbrs757972971
gwascentralrs757972971
openSNPrs757972971
23andMers757972971
SNPshotrs757972971
SNPdbers757972971
MSV3drs757972971
GWAS Ctlgrs757972971
Max Magnitude6.6

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