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rs3777134

From SNPedia

Orientationminus
Stabilizedminus
Make rs3777134(C;C)
Make rs3777134(C;T)
Make rs3777134(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position148118456
GeneSPINK5
is asnp
is mentioned by
dbSNPrs3777134
ebirs3777134
HLIrs3777134
Exacrs3777134
Varsomers3777134
Maprs3777134
PheGenIrs3777134
hapmaprs3777134
1000 genomesrs3777134
hgdprs3777134
ensemblrs3777134
gopubmedrs3777134
geneviewrs3777134
scholarrs3777134
googlers3777134
pharmgkbrs3777134
gwascentralrs3777134
openSNPrs3777134
23andMers3777134
23andMe allrs3777134
SNP Nexus

SNPshotrs3777134
SNPdbers3777134
MSV3drs3777134
GWAS Ctlgrs3777134
GMAF0.4936
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene SPINK5
allele A
frequency 0.383
sift TOLERATED
HuRef 1103654252298
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-R711Q
aa_change Arg711Gln
aa_change_short R711Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.544989
summary