rs1057516756

Orientation

minus

Stabilized

minus

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

Make rs1057516756(C;T)

Make rs1057516756(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209617924

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516756
dbSNP (classic)	rs1057516756
ClinGen	rs1057516756
ebi	rs1057516756
HLI	rs1057516756
Exac	rs1057516756
Gnomad	rs1057516756
Varsome	rs1057516756
LitVar	rs1057516756
Map	rs1057516756
PheGenI	rs1057516756
Biobank	rs1057516756
1000 genomes	rs1057516756
hgdp	rs1057516756
ensembl	rs1057516756
geneview	rs1057516756
scholar	rs1057516756
google	rs1057516756
pharmgkb	rs1057516756
gwascentral	rs1057516756
openSNP	rs1057516756
23andMe	rs1057516756
SNPshot	rs1057516756
SNPdbe	rs1057516756
MSV3d	rs1057516756
GWAS Ctlg	rs1057516756

Max Magnitude

0

ClinVar
Risk	rs1057516756(T;T)
Alt	rs1057516756(T;T)
Reference	Rs1057516756(C;C)
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.209791269G>A
CLNSRC
CLNACC	RCV000410367.1,