{{Rsnum
|rsid=2303063
|Gene=SPINK5
|Chromosome=5
|position=148100464
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4279
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SPINK5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 22.5 | 52.3 | 25.2
| HCB | 25.6 | 45.9 | 28.6
| JPT | 16.2 | 59.5 | 24.3
| YRI | 2.8 | 34.7 | 62.5
| ASW | 7.1 | 44.6 | 48.2
| CHB | 25.6 | 45.9 | 28.6
| CHD | 25.2 | 54.2 | 20.6
| GIH | 21.6 | 52.6 | 25.8
| LWK | 6.5 | 28.0 | 65.4
| MEX | 54.4 | 31.6 | 14.0
| MKK | 5.8 | 36.8 | 57.4
| TSI | 16.8 | 54.5 | 28.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=2303063
|allele=A
|frequency=0.483
|uid=1103654252254
|type=heterozygous_SNP
|hugo=SPINK5
|ensembl gene=ENSG00000133710
|ensembl transcript=ENST00000359874
|sift=TOLERATED
|disease=Defects in SPINK5 are the cause of Netherton syndrome (NS) (MIM:256500). NS is a severe autosomal recessive disorder, it is characterized by congenital ichthyosis with defective cornification, a specific hair shaft defect known as trichorrexis invaginata or ""bamboo hair"", atopic dermatitis, and hayfever. High post-natal mortality is due to failure to thrive, infections and hypernatraemic dehydration.
}}

{{ neighbor
| rsid = 2303064
| distance = 53
}}

{{PMID Auto
|PMID=16519819
|Title=Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
|OA=1
}}

{{GET Evidence
|gene=SPINK5
|aa_change=Ser368Asn
|aa_change_short=S368N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2303063
|overall_frequency_n=4194
|overall_frequency_d=9798
|overall_frequency=0.428047
|n_genomes=31
|n_genomes_annotated=0
|n_haplomes=42
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=2
}}

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