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rs2303063

From SNPedia

Orientationplus
Stabilizedplus
Make rs2303063(A;A)
Make rs2303063(A;G)
Make rs2303063(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position148100464
GeneSPINK5
is asnp
is mentioned by
dbSNPrs2303063
ebirs2303063
HLIrs2303063
Exacrs2303063
Varsomers2303063
Maprs2303063
PheGenIrs2303063
hapmaprs2303063
1000 genomesrs2303063
hgdprs2303063
ensemblrs2303063
gopubmedrs2303063
geneviewrs2303063
scholarrs2303063
googlers2303063
pharmgkbrs2303063
gwascentralrs2303063
openSNPrs2303063
23andMers2303063
23andMe allrs2303063
SNP Nexus

SNPshotrs2303063
SNPdbers2303063
MSV3drs2303063
GWAS Ctlgrs2303063
GMAF0.4279
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SPINK5
allele A
frequency 0.483
sift TOLERATED
HuRef 1103654252254
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.



Neighborrs2303064
Distance53
[PMID 16519819OA-icon.png] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.


GET Evidence
SPINK5-S368N
aa_change Ser368Asn
aa_change_short S368N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.428047
summary