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rs3826550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3826550(C;T)
Make rs3826550(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586555
GeneKRT14
is asnp
is mentioned by
dbSNPrs3826550
ebirs3826550
HLIrs3826550
Exacrs3826550
Varsomers3826550
Maprs3826550
PheGenIrs3826550
hapmaprs3826550
1000 genomesrs3826550
hgdprs3826550
ensemblrs3826550
gopubmedrs3826550
geneviewrs3826550
scholarrs3826550
googlers3826550
pharmgkbrs3826550
gwascentralrs3826550
openSNPrs3826550
23andMers3826550
23andMe allrs3826550
SNP Nexus

SNPshotrs3826550
SNPdbers3826550
MSV3drs3826550
GWAS Ctlgrs3826550
GMAF0.2984
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene KRT14
allele T
frequency 0.475
sift TOLERATED
HuRef 1103645324751
Disease Association Defects in KRT14 are a cause of epidermolysis bullosa simplex Koebner type (K-EBS) (MIM:131900). K-EBS is characterized by generalized blistering as the Dowling-Meara type; the phenotype however is less severe.



Neighborrs28928893
Distance76
GET Evidence
KRT14-A94T
aa_change Ala94Thr
aa_change_short A94T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.440219
summary


ClinVar
Risk rs3826550(T;T)
Alt rs3826550(T;T)
Reference rs3826550(C;C)
Significance Untested
Disease not provided
Variation info
Gene KRT14
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.39742807C>T
CLNSRC ClinVar Epithelial Biology
CLNACC RCV000056702.1,