{{Rsnum
|rsid=30832
|Gene=SLC26A2
|Chromosome=5
|position=149981314
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.002755
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SLC26A2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 1.0 | 99.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=30832
|allele=C
|frequency=0.991
|uid=1103654255829
|type=homozygous_SNP
|hugo=SLC26A2
|ensembl gene=ENSG00000155850
|ensembl transcript=ENST00000286298
|sift=TOLERATED
|disease=Defects in SLC26A2 are the cause of multiple epiphyseal dysplasia 4 (EDM4) (MIM:226900). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature in EDM4 patients is not frequent.
}}

{{GET Evidence
|gene=SLC26A2
|aa_change=Ile574Thr
|aa_change_short=I574T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs30832
|overall_frequency_n=10681
|overall_frequency_d=10756
|overall_frequency=0.993027
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}