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rs80356681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of epidermolysis bullosa allele
(T;T) 5 epidermolysis bullosa
ReferenceGRCh38 38.1/141
Chromosome1
Position209632678
GeneLAMB3
is asnp
is mentioned by
dbSNPrs80356681
ebirs80356681
HLIrs80356681
Exacrs80356681
Varsomers80356681
Maprs80356681
PheGenIrs80356681
hapmaprs80356681
1000 genomesrs80356681
hgdprs80356681
ensemblrs80356681
gopubmedrs80356681
geneviewrs80356681
scholarrs80356681
googlers80356681
pharmgkbrs80356681
gwascentralrs80356681
openSNPrs80356681
23andMers80356681
23andMe allrs80356681
SNP Nexus

SNPshotrs80356681
SNPdbers80356681
MSV3drs80356681
GWAS Ctlgrs80356681
Max Magnitude5

epidermolysis bullosa, junctional, Herlitz type


ClinVar
Risk rs80356681(T;T)
Alt rs80356681(T;T)
Reference rs80356681(C;C)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209806023G>A
CLNSRC ClinVar GeneReviews NCBI curation
CLNACC RCV000020223.2,