rs1057516399

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057516399(C;T)

Make rs1057516399(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209634506

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516399
dbSNP (classic)	rs1057516399
ClinGen	rs1057516399
ebi	rs1057516399
HLI	rs1057516399
Exac	rs1057516399
Gnomad	rs1057516399
Varsome	rs1057516399
LitVar	rs1057516399
Map	rs1057516399
PheGenI	rs1057516399
Biobank	rs1057516399
1000 genomes	rs1057516399
hgdp	rs1057516399
ensembl	rs1057516399
geneview	rs1057516399
scholar	rs1057516399
google	rs1057516399
pharmgkb	rs1057516399
gwascentral	rs1057516399
openSNP	rs1057516399
23andMe	rs1057516399
SNPshot	rs1057516399
SNPdbe	rs1057516399
MSV3d	rs1057516399
GWAS Ctlg	rs1057516399

Max Magnitude

0

ClinVar
Risk	rs1057516399(T;T)
Alt	rs1057516399(T;T)
Reference	Rs1057516399(C;C)
Significance	Probable-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.209807851G>A
CLNSRC
CLNACC	RCV000411400.1,