rs1057516249

Orientation

minus

Stabilized

minus

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

Make rs1057516249(-;-)

Make rs1057516249(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209630638

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516249
dbSNP (classic)	rs1057516249
ClinGen	rs1057516249
ebi	rs1057516249
HLI	rs1057516249
Exac	rs1057516249
Gnomad	rs1057516249
Varsome	rs1057516249
LitVar	rs1057516249
Map	rs1057516249
PheGenI	rs1057516249
Biobank	rs1057516249
1000 genomes	rs1057516249
hgdp	rs1057516249
ensembl	rs1057516249
geneview	rs1057516249
scholar	rs1057516249
google	rs1057516249
pharmgkb	rs1057516249
gwascentral	rs1057516249
openSNP	rs1057516249
23andMe	rs1057516249
SNPshot	rs1057516249
SNPdbe	rs1057516249
MSV3d	rs1057516249
GWAS Ctlg	rs1057516249

Max Magnitude

0

ClinVar
Risk	rs1057516249(-;-)
Alt	rs1057516249(-;-)
Reference	Rs1057516249(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.209803983delC
CLNSRC
CLNACC	RCV000412191.1,