{{Rsnum
|rsid=1007160
|Gene=SLC7A9
|Chromosome=19
|position=32862155
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.3026
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=SLC7A9
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 12.4 | 46.0 | 41.6
| HCB | 5.8 | 42.3 | 51.8
| JPT | 4.4 | 46.0 | 49.6
| YRI | 6.1 | 43.5 | 50.3
| ASW | 14.0 | 40.4 | 45.6
| CHB | 5.8 | 42.3 | 51.8
| CHD | 9.2 | 33.0 | 57.8
| GIH | 1.0 | 34.7 | 64.4
| LWK | 9.1 | 38.2 | 52.7
| MEX | 3.4 | 25.9 | 70.7
| MKK | 1.9 | 26.9 | 71.2
| TSI | 11.8 | 50.0 | 38.2
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1007160
|allele=T
|frequency=0.3
|uid=1103691130851
|type=heterozygous_SNP
|hugo=SLC7A9
|ensembl gene=ENSG00000021488
|ensembl transcript=ENST00000023064
|sift=TOLERATED
|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=Leu223Met
|aa_change_short=L223M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1007160
|overall_frequency_n=3517
|overall_frequency_d=10758
|overall_frequency=0.326919
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=31
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.006
|genetests_testable=Y
|nblosum100=-3
|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}}