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rs2303067

From SNPedia

asthma and atopic dermatitis
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.8x risk
(A;G)  ?
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome5
Position148101392
GeneSPINK5
is asnp
is mentioned by
dbSNPrs2303067
ebirs2303067
HLIrs2303067
Exacrs2303067
Varsomers2303067
Maprs2303067
PheGenIrs2303067
hapmaprs2303067
1000 genomesrs2303067
hgdprs2303067
ensemblrs2303067
gopubmedrs2303067
geneviewrs2303067
scholarrs2303067
googlers2303067
pharmgkbrs2303067
gwascentralrs2303067
openSNPrs2303067
23andMers2303067
23andMe allrs2303067
SNP Nexus

SNPshotrs2303067
SNPdbers2303067
MSV3drs2303067
GWAS Ctlgrs2303067
GMAF0.4284
Max Magnitude0
? (A;A) (A;G) (G;G) 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)."

Neighborrs2303064
Distance875


Venter snp
Source plos
Gene SPINK5
allele G
frequency 0.483
sift TOLERATED
HuRef 1103654252264
Disease Association 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.



OMIM605010
Desc
Variant0004
Relatedalso


ClinVar
Risk rs2303067(G;G)
Alt rs2303067(G;G)
Reference rs2303067(A;A)
Significance Other
Disease Atopy Dermatitis Asthma
Variation info
Gene SPINK5
CLNDBN Atopy, susceptibility to Dermatitis, atopic, 6, susceptibility to Asthma, susceptibility to
Reversed 0
HGVS NC_000005.9:g.147480955A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005585.2, RCV000005586.2, RCV000005587.2,



[PMID 16519819OA-icon.png] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.


[PMID 18704161OA-icon.png] Genetic variation in an individual human exome.


[PMID 18774391] 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
SPINK5-K420E
aa_change Lys420Glu
aa_change_short K420E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.432979
summary