rs1057516410

Orientation

plus

Stabilized

plus

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

Make rs1057516410(C;C)

Make rs1057516410(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183218489

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516410
dbSNP (classic)	rs1057516410
ClinGen	rs1057516410
ebi	rs1057516410
HLI	rs1057516410
Exac	rs1057516410
Gnomad	rs1057516410
Varsome	rs1057516410
LitVar	rs1057516410
Map	rs1057516410
PheGenI	rs1057516410
Biobank	rs1057516410
1000 genomes	rs1057516410
hgdp	rs1057516410
ensembl	rs1057516410
geneview	rs1057516410
scholar	rs1057516410
google	rs1057516410
pharmgkb	rs1057516410
gwascentral	rs1057516410
openSNP	rs1057516410
23andMe	rs1057516410
SNPshot	rs1057516410
SNPdbe	rs1057516410
MSV3d	rs1057516410
GWAS Ctlg	rs1057516410

Max Magnitude

0

ClinVar
Risk	rs1057516410(C;C)
Alt	rs1057516410(C;C)
Reference	Rs1057516410(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.183187624G>C
CLNSRC
CLNACC	RCV000410904.1,