{{Rsnum
|rsid=12150889
|Gene=SLC7A9
|Chromosome=19
|position=32864149
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.326
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SLC7A9
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 42.5 | 44.2 | 13.3
| HCB | 52.2 | 41.9 | 5.9
| JPT | 49.1 | 46.4 | 4.5
| YRI | 40.8 | 47.6 | 11.6
| ASW | 35.7 | 46.4 | 17.9
| CHB | 52.2 | 41.9 | 5.9
| CHD | 57.8 | 33.0 | 9.2
| GIH | 64.4 | 34.7 | 1.0
| LWK | 33.6 | 52.7 | 13.6
| MEX | 63.8 | 32.8 | 3.4
| MKK | 50.0 | 42.3 | 7.7
| TSI | 38.2 | 48.0 | 13.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=12150889
|allele=G
|frequency=
|uid=1103691130855
|type=heterozygous_SNP
|hugo=SLC7A9
|ensembl gene=ENSG00000021488
|ensembl transcript=ENST00000023064
|sift=AFFECT FUNCTION
|disease=Defects in SLC7A9 are a cause of non-type I cystinuria (CSNU) (MIM:600918). CSNU arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described: type I (fully recessive or silent); type II (high excretor); type III (moderate excretor). Defects in SLC7A9 are associated with type II and type III cystinuria. They also might account for some non-classic type I cystinuria cases.
}}

{{GET Evidence
|gene=SLC7A9
|aa_change=Val142Ala
|aa_change_short=V142A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12150889
|overall_frequency_n=3823
|overall_frequency_d=10758
|overall_frequency=0.355363
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=2
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}