rs80356681

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	carrier of epidermolysis bullosa allele
(T;T)	5	epidermolysis bullosa

Reference

GRCh38 38.1/141

Chromosome

1

Position

209632678

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs80356681
dbSNP (classic)	rs80356681
ClinGen	rs80356681
ebi	rs80356681
HLI	rs80356681
Exac	rs80356681
Gnomad	rs80356681
Varsome	rs80356681
LitVar	rs80356681
Map	rs80356681
PheGenI	rs80356681
Biobank	rs80356681
1000 genomes	rs80356681
hgdp	rs80356681
ensembl	rs80356681
geneview	rs80356681
scholar	rs80356681
google	rs80356681
pharmgkb	rs80356681
gwascentral	rs80356681
openSNP	rs80356681
23andMe	rs80356681
SNPshot	rs80356681
SNPdbe	rs80356681
MSV3d	rs80356681
GWAS Ctlg	rs80356681

Max Magnitude

5

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,