rs1057516743

Orientation

plus

Stabilized

plus

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

Make rs1057516743(-;-)

Make rs1057516743(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23876344

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057516743
dbSNP (classic)	rs1057516743
ClinGen	rs1057516743
ebi	rs1057516743
HLI	rs1057516743
Exac	rs1057516743
Gnomad	rs1057516743
Varsome	rs1057516743
LitVar	rs1057516743
Map	rs1057516743
PheGenI	rs1057516743
Biobank	rs1057516743
1000 genomes	rs1057516743
hgdp	rs1057516743
ensembl	rs1057516743
geneview	rs1057516743
scholar	rs1057516743
google	rs1057516743
pharmgkb	rs1057516743
gwascentral	rs1057516743
openSNP	rs1057516743
23andMe	rs1057516743
SNPshot	rs1057516743
SNPdbe	rs1057516743
MSV3d	rs1057516743
GWAS Ctlg	rs1057516743

Max Magnitude

0

ClinVar
Risk	rs1057516743(-;-)
Alt	rs1057516743(-;-)
Reference	Rs1057516743(G;G)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMA3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000018.9:g.21456308delG
CLNSRC
CLNACC	RCV000412059.1,