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rs34482796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34482796(C;T)
Make rs34482796(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position148097988
GeneSPINK5
is asnp
is mentioned by
dbSNPrs34482796
ebirs34482796
HLIrs34482796
Exacrs34482796
Varsomers34482796
Maprs34482796
PheGenIrs34482796
hapmaprs34482796
1000 genomesrs34482796
hgdprs34482796
ensemblrs34482796
gopubmedrs34482796
geneviewrs34482796
scholarrs34482796
googlers34482796
pharmgkbrs34482796
gwascentralrs34482796
openSNPrs34482796
23andMers34482796
23andMe allrs34482796
SNP Nexus

SNPshotrs34482796
SNPdbers34482796
MSV3drs34482796
GWAS Ctlgrs34482796
GMAF0.4417
Max Magnitude0
Venter snp
Source plos
Gene SPINK5
allele T
frequency
sift TOLERATED
HuRef 1103654252238
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.



GET Evidence
SPINK5-A335V
aa_change Ala335Val
aa_change_short A335V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.439834
summary



ClinVar
Risk rs34482796(T;T)
Alt rs34482796(T;T)
Reference rs34482796(C;C)
Significance Non-pathogenic
Disease not provided
Variation info
Gene SPINK5
CLNDBN not provided
Reversed 0
HGVS NC_000005.9:g.147477551C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000128218.1,