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rs34738426

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34738426(G;T)
Make rs34738426(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7581514
GeneDSP
is asnp
is mentioned by
dbSNPrs34738426
ebirs34738426
HLIrs34738426
Exacrs34738426
Varsomers34738426
Maprs34738426
PheGenIrs34738426
hapmaprs34738426
1000 genomesrs34738426
hgdprs34738426
ensemblrs34738426
gopubmedrs34738426
geneviewrs34738426
scholarrs34738426
googlers34738426
pharmgkbrs34738426
gwascentralrs34738426
openSNPrs34738426
23andMers34738426
23andMe allrs34738426
SNP Nexus

SNPshotrs34738426
SNPdbers34738426
MSV3drs34738426
GWAS Ctlgrs34738426
Max Magnitude0
Venter snp
Source plos
Gene DSP
allele T
frequency
sift TOLERATED
HuRef 1103652776080
Disease Association Defects in DSP are the cause of lethal acantholytic epidermolysis bullosa (MIM:609638). Lethal acantholytic epidermolysis bullosa is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.



ClinVar
Risk rs34738426(T;T)
Alt rs34738426(T;T)
Reference rs34738426(G;G)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not provided not specified
Variation info
Gene DSP
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not provided not specified
Reversed 0
HGVS NC_000006.11:g.7581747G>T
CLNSRC ClinVar University of Washington
CLNACC RCV000148479.3, RCV000181384.1, RCV000215521.1,