rs1057516487

Orientation

plus

Stabilized

plus

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

Make rs1057516487(A;A)

Make rs1057516487(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183232186

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516487
dbSNP (classic)	rs1057516487
ClinGen	rs1057516487
ebi	rs1057516487
HLI	rs1057516487
Exac	rs1057516487
Gnomad	rs1057516487
Varsome	rs1057516487
LitVar	rs1057516487
Map	rs1057516487
PheGenI	rs1057516487
Biobank	rs1057516487
1000 genomes	rs1057516487
hgdp	rs1057516487
ensembl	rs1057516487
geneview	rs1057516487
scholar	rs1057516487
google	rs1057516487
pharmgkb	rs1057516487
gwascentral	rs1057516487
openSNP	rs1057516487
23andMe	rs1057516487
SNPshot	rs1057516487
SNPdbe	rs1057516487
MSV3d	rs1057516487
GWAS Ctlg	rs1057516487

Max Magnitude

0

ClinVar
Risk	rs1057516487(A;A)
Alt	rs1057516487(A;A)
Reference	Rs1057516487(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.183201321G>A
CLNSRC
CLNACC	RCV000411834.1,