rs1057516884

Orientation

minus

Stabilized

minus

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

Make rs1057516884(-;-)

Make rs1057516884(-;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209650077

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516884
dbSNP (classic)	rs1057516884
ClinGen	rs1057516884
ebi	rs1057516884
HLI	rs1057516884
Exac	rs1057516884
Gnomad	rs1057516884
Varsome	rs1057516884
LitVar	rs1057516884
Map	rs1057516884
PheGenI	rs1057516884
Biobank	rs1057516884
1000 genomes	rs1057516884
hgdp	rs1057516884
ensembl	rs1057516884
geneview	rs1057516884
scholar	rs1057516884
google	rs1057516884
pharmgkb	rs1057516884
gwascentral	rs1057516884
openSNP	rs1057516884
23andMe	rs1057516884
SNPshot	rs1057516884
SNPdbe	rs1057516884
MSV3d	rs1057516884
GWAS Ctlg	rs1057516884

Max Magnitude

0

ClinVar
Risk	rs1057516884(-;-)
Alt	rs1057516884(-;-)
Reference	Rs1057516884(TG;TG)
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.209823422_209823423delCA
CLNSRC
CLNACC	RCV000412261.1,