rs1057516241

Orientation

minus

Stabilized

minus

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

Make rs1057516241(-;-)

Make rs1057516241(-;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209634511

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516241
dbSNP (classic)	rs1057516241
ClinGen	rs1057516241
ebi	rs1057516241
HLI	rs1057516241
Exac	rs1057516241
Gnomad	rs1057516241
Varsome	rs1057516241
LitVar	rs1057516241
Map	rs1057516241
PheGenI	rs1057516241
Biobank	rs1057516241
1000 genomes	rs1057516241
hgdp	rs1057516241
ensembl	rs1057516241
geneview	rs1057516241
scholar	rs1057516241
google	rs1057516241
pharmgkb	rs1057516241
gwascentral	rs1057516241
openSNP	rs1057516241
23andMe	rs1057516241
SNPshot	rs1057516241
SNPdbe	rs1057516241
MSV3d	rs1057516241
GWAS Ctlg	rs1057516241

Max Magnitude

0

ClinVar
Risk	rs1057516241(-;-)
Alt	rs1057516241(-;-)
Reference	Rs1057516241(AG;AG)
Significance	Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz not provided
Variation	info
Gene	LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz not provided
Reversed	1
HGVS	NC_000001.10:g.209807856_209807857delCT
CLNSRC
CLNACC	RCV000409301.1, RCV000413390.1,