rs1057516473

Orientation

plus

Stabilized

plus

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

Make rs1057516473(-;-)

Make rs1057516473(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183243175

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516473
dbSNP (classic)	rs1057516473
ClinGen	rs1057516473
ebi	rs1057516473
HLI	rs1057516473
Exac	rs1057516473
Gnomad	rs1057516473
Varsome	rs1057516473
LitVar	rs1057516473
Map	rs1057516473
PheGenI	rs1057516473
Biobank	rs1057516473
1000 genomes	rs1057516473
hgdp	rs1057516473
ensembl	rs1057516473
geneview	rs1057516473
scholar	rs1057516473
google	rs1057516473
pharmgkb	rs1057516473
gwascentral	rs1057516473
openSNP	rs1057516473
23andMe	rs1057516473
SNPshot	rs1057516473
SNPdbe	rs1057516473
MSV3d	rs1057516473
GWAS Ctlg	rs1057516473

Max Magnitude

0

ClinVar
Risk	rs1057516473(-;-)
Alt	rs1057516473(-;-)
Reference	Rs1057516473(G;G)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMC2
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000001.10:g.183212310delG
CLNSRC
CLNACC	RCV000409003.1,