{{Rsnum
|rsid=2303067
|Gene=SPINK5
|Chromosome=5
|position=148101392
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4284
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=asthma and atopic dermatitis
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SPINK5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 25.7 | 52.2 | 22.1
| HCB | 29.4 | 45.6 | 25.0
| JPT | 27.4 | 56.6 | 15.9
| YRI | 65.3 | 32.0 | 2.7
| ASW | 50.9 | 42.1 | 7.0
| CHB | 29.4 | 45.6 | 25.0
| CHD | 21.1 | 54.1 | 24.8
| GIH | 25.7 | 52.5 | 21.8
| LWK | 65.1 | 27.5 | 7.3
| MEX | 13.8 | 34.5 | 51.7
| MKK | 56.1 | 38.1 | 5.8
| TSI | 29.4 | 53.9 | 16.7
| HapMapRevision=28
}}[[rs2303067]], a SNP in the [[SPINK5]] gene, has been significantly associated with susceptibility to [[atopic dermatitis]]. {{PMID|11544479}}

The risk allele for [[rs2303067]] is (A).

[[rs2303067]] has also been associated with predisposition to [[asthma]], {{PMID|15005725}}. From this study:
"A significant association between [[rs2303067]] and the development of [[asthma]] was observed (OR 1.77; 95%CI: 1.02-3.06, P=0.041 for [[rs2303067(A;A)]] homozygotes). Atopic carriers of [[rs2303067]] showed an increased risk for [[asthma]] and asthma symptoms (OR 2.06; 95%CI: 1.01-4.20, P=0.047). When children with a combination of [[asthma]] and atopic dermatitis were compared with normal controls, the [[rs2303067]](A) genotype was more prevalent in the disease group (OR 4.56; 95%CI: 1.370-15.12, P=0.007)."

{{ neighbor
| rsid = 2303064
| distance = 875
}}

{{Venter SNP
|rsid=2303067
|allele=G
|frequency=0.483
|uid=1103654252264
|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.
}}

{{omim
|id=605010
|rsnum=2303067
|variant=0004
}}

{{ClinVar
|rsid=2303067
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=147480955
|CHROM=5
|GMAF=0.4286
|dbSNPBuildID=100
|SSR=0
|SAO=1
|VP=0x05016800000017051f110100
|GENEINFO=SPINK5:11005
|GENE_NAME=SPINK5
|GENE_ID=11005
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.147480955A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605010.0004
|CLNSIG=255
|CLNCUI=CN029238
|CLNDBN=Atopy, susceptibility to; Dermatitis, atopic, 6, susceptibility to; Asthma, susceptibility to
|Disease=Atopy; Dermatitis; Asthma
|CLNACC=RCV000005585.1; RCV000005586.1; RCV000005587.1
|Tags=PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.5716; 0.4284
|CLNDSDB=MedGen; MedGen:OMIM
|CLNDSDBID=C1840254; C1869116:600807
|COMMON=1
}}

{{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
}}

{{PMID Auto
|PMID=18704161
|Title=Genetic variation in an individual human exome.
|OA=1
}}

{{PMID Auto
|PMID=18774391
|Title=Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.
}}

{{GET Evidence
|gene=SPINK5
|aa_change=Lys420Glu
|aa_change_short=K420E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2303067
|overall_frequency_n=4154
|overall_frequency_d=9594
|overall_frequency=0.432979
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=44
|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 v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}