{{Rsnum
|rsid=1129187
|Gene=PEX6
|Chromosome=6
|position=42964462
|Orientation=minus
|GMAF=0.3287
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=PEX6
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 23.9 | 44.2 | 31.9
| HCB | 0.7 | 16.9 | 82.4
| JPT | 1.8 | 25.7 | 72.6
| YRI | 13.6 | 42.9 | 43.5
| ASW | 14.0 | 36.8 | 49.1
| CHB | 0.7 | 16.9 | 82.4
| CHD | 2.8 | 22.0 | 75.2
| GIH | 14.9 | 43.6 | 41.6
| LWK | 15.5 | 43.6 | 40.9
| MEX | 5.2 | 44.8 | 50.0
| MKK | 23.1 | 48.7 | 28.2
| TSI | 27.5 | 46.1 | 26.5
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1129187
|allele=T
|frequency=
|uid=1103652853148
|type=homozygous_SNP
|hugo=PEX6
|ensembl gene=ENSG00000124587
|ensembl transcript=ENST00000304611
|sift=TOLERATED
|disease=Defects in PEX6 are a cause of Zellweger syndrome (ZWS) (MIM:214100). ZWS is the most severe peroxisome biogenesis disorder (PBD). PBDs are a group of lethal inherited disorders, clinically classified as Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS is characterized by the absence of peroxisomes and by multiple metabolic defects. Patients with ZWS have severe neurological abnormalities, dysmorphic facial features, hepatomegaly, and multiple renal cysts; most die within 6 months of birth. NALD and IRD are similar to ZWS, but progressively milder, with some IRD patients surviving beyond the third decade of life. Classical RCDP, distinct from the ZWS spectrum, is associated with a characteristic facial appearance, rhizomelia, ichthyosis, and severe neurological impairment.
}}

{{ClinVar
|rsid=1129187
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=42932200
|CHROM=6
|GMAF=0.3292
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05036000000017051f100100
|GENEINFO=PEX6:5190
|GENE_NAME=PEX6
|GENE_ID=5190
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.42932200G>T
|CLNORIGIN=0
|CLNSIG=2
|Tags=RV;PM;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.6713; 0.3287
|COMMON=1
|CLNACC=RCV000078574.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNSRC=Emory University
|CLNSRCID=8348
|Disease=AllHighlyPenetrant
}}

{{GET Evidence
|gene=PEX6
|aa_change=Pro939Gln
|aa_change_short=P939Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1129187
|overall_frequency_n=4629
|overall_frequency_d=10758
|overall_frequency=0.430284
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=4
|autoscore=3
|n_web_uneval=1
}}

{{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}}