{{Rsnum
|rsid=1056899
|Gene=SETX
|Chromosome=9
|position=132264514
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4908
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SETX
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 50.4 | 46.0 | 3.5
| HCB | 10.2 | 38.7 | 51.1
| JPT | 11.5 | 33.6 | 54.9
| YRI | 3.4 | 32.7 | 63.9
| ASW | 8.8 | 42.1 | 49.1
| CHB | 10.2 | 38.7 | 51.1
| CHD | 8.3 | 37.6 | 54.1
| GIH | 37.6 | 49.5 | 12.9
| LWK | 5.5 | 27.3 | 67.3
| MEX | 43.1 | 37.9 | 19.0
| MKK | 10.3 | 37.2 | 52.6
| TSI | 51.0 | 37.3 | 11.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=1056899
|allele=C
|frequency=0.224
|uid=1103652196738
|type=homozygous_SNP
|hugo=SETX
|ensembl gene=ENSG00000107290
|ensembl transcript=ENST00000372169
|sift=
|disease=Defects in ALS4 are a cause of amyotrophic lateral sclerosis 4 (ALS4) (MIM:602433). ALS4 is a rare, childhood- or adolescent-onset, autosomal dominant form of amyotrophic lateral sclerosis that is characterized by slow disease progression, limb weakness, severe muscle wasting, and pyramidal signs associated with degeneration of motor neurons in the brain and spinal cord. Amyotrophic lateral sclerosis denote a heterogeneous group of severe, progressive neurological disorders associated with degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. ALS4 includes a long duration of disease, absence of overt sensory abnormalities, and the sparing of bulbar and respiratory muscles.
}}

{{GET Evidence
|gene=SETX
|aa_change=Ile2587Val
|aa_change_short=I2587V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1056899
|overall_frequency_n=4842
|overall_frequency_d=10758
|overall_frequency=0.450084
|n_genomes=20
|n_genomes_annotated=0
|n_haplomes=28
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=2
|webscore=N
}}

{{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}}