rs1057517096

Orientation

minus

Stabilized

minus

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

Make rs1057517096(C;T)

Make rs1057517096(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209629752

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057517096
dbSNP (classic)	rs1057517096
ClinGen	rs1057517096
ebi	rs1057517096
HLI	rs1057517096
Exac	rs1057517096
Gnomad	rs1057517096
Varsome	rs1057517096
LitVar	rs1057517096
Map	rs1057517096
PheGenI	rs1057517096
Biobank	rs1057517096
1000 genomes	rs1057517096
hgdp	rs1057517096
ensembl	rs1057517096
geneview	rs1057517096
scholar	rs1057517096
google	rs1057517096
pharmgkb	rs1057517096
gwascentral	rs1057517096
openSNP	rs1057517096
23andMe	rs1057517096
SNPshot	rs1057517096
SNPdbe	rs1057517096
MSV3d	rs1057517096
GWAS Ctlg	rs1057517096

Max Magnitude

0

ClinVar
Risk	rs1057517096(T;T)
Alt	rs1057517096(T;T)
Reference	Rs1057517096(C;C)
Significance	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.209803097G>A
CLNSRC
CLNACC	RCV000411684.1,