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rs2303064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2303064(A;A)
Make rs2303064(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position148100517
GeneSPINK5
is asnp
is mentioned by
dbSNPrs2303064
ebirs2303064
HLIrs2303064
Exacrs2303064
Varsomers2303064
Maprs2303064
PheGenIrs2303064
hapmaprs2303064
1000 genomesrs2303064
hgdprs2303064
ensemblrs2303064
gopubmedrs2303064
geneviewrs2303064
scholarrs2303064
googlers2303064
pharmgkbrs2303064
gwascentralrs2303064
openSNPrs2303064
23andMers2303064
23andMe allrs2303064
SNP Nexus

SNPshotrs2303064
SNPdbers2303064
MSV3drs2303064
GWAS Ctlgrs2303064
GMAF0.3021
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs2303064, a SNP in the SPINK5 gene, has been associated with susceptibility to atopic dermatitis. [PMID 11544479]
Neighborrs2303067
Distance875
Neighborrs2303063
Distance53
[PMID 16519819OA-icon.png] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.


[PMID 21087323] Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans.


GET Evidence
SPINK5-D386N
aa_change Asp386Asn
aa_change_short D386N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.226355
summary



ClinVar
Risk rs2303064(A;A)
Alt rs2303064(A;A)
Reference rs2303064(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SPINK5
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.147480080G>A
CLNSRC ClinVar GeneDx
CLNACC RCV000128219.1,