rs1057516947

Orientation

minus

Stabilized

minus

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

Make rs1057516947(-;-)

Make rs1057516947(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209634450

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516947
dbSNP (classic)	rs1057516947
ClinGen	rs1057516947
ebi	rs1057516947
HLI	rs1057516947
Exac	rs1057516947
Gnomad	rs1057516947
Varsome	rs1057516947
LitVar	rs1057516947
Map	rs1057516947
PheGenI	rs1057516947
Biobank	rs1057516947
1000 genomes	rs1057516947
hgdp	rs1057516947
ensembl	rs1057516947
geneview	rs1057516947
scholar	rs1057516947
google	rs1057516947
pharmgkb	rs1057516947
gwascentral	rs1057516947
openSNP	rs1057516947
23andMe	rs1057516947
SNPshot	rs1057516947
SNPdbe	rs1057516947
MSV3d	rs1057516947
GWAS Ctlg	rs1057516947

Max Magnitude

0

ClinVar
Risk	rs1057516947(-;-)
Alt	rs1057516947(-;-)
Reference	Rs1057516947(G;G)
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.209807795delC
CLNSRC
CLNACC	RCV000410915.1,