rs1057516218

Orientation

plus

Stabilized

plus

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

Make rs1057516218(-;-)

Make rs1057516218(-;GG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183223248

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516218
dbSNP (classic)	rs1057516218
ClinGen	rs1057516218
ebi	rs1057516218
HLI	rs1057516218
Exac	rs1057516218
Gnomad	rs1057516218
Varsome	rs1057516218
LitVar	rs1057516218
Map	rs1057516218
PheGenI	rs1057516218
Biobank	rs1057516218
1000 genomes	rs1057516218
hgdp	rs1057516218
ensembl	rs1057516218
geneview	rs1057516218
scholar	rs1057516218
google	rs1057516218
pharmgkb	rs1057516218
gwascentral	rs1057516218
openSNP	rs1057516218
23andMe	rs1057516218
SNPshot	rs1057516218
SNPdbe	rs1057516218
MSV3d	rs1057516218
GWAS Ctlg	rs1057516218

Max Magnitude

0

ClinVar
Risk	rs1057516218(-;-)
Alt	rs1057516218(-;-)
Reference	Rs1057516218(GG;GG)
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.183192383_183192384delGG
CLNSRC
CLNACC	RCV000409946.1,