rs1057516400

Orientation

minus

Stabilized

minus

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

Make rs1057516400(-;-)

Make rs1057516400(-;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209615272

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516400
dbSNP (classic)	rs1057516400
ClinGen	rs1057516400
ebi	rs1057516400
HLI	rs1057516400
Exac	rs1057516400
Gnomad	rs1057516400
Varsome	rs1057516400
LitVar	rs1057516400
Map	rs1057516400
PheGenI	rs1057516400
Biobank	rs1057516400
1000 genomes	rs1057516400
hgdp	rs1057516400
ensembl	rs1057516400
geneview	rs1057516400
scholar	rs1057516400
google	rs1057516400
pharmgkb	rs1057516400
gwascentral	rs1057516400
openSNP	rs1057516400
23andMe	rs1057516400
SNPshot	rs1057516400
SNPdbe	rs1057516400
MSV3d	rs1057516400
GWAS Ctlg	rs1057516400

Max Magnitude

0

ClinVar
Risk	rs1057516400(-;-)
Alt	rs1057516400(-;-)
Reference	Rs1057516400(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.209788617_209788618delCA
CLNSRC
CLNACC	RCV000408972.1,