rs1057516279

Orientation

plus

Stabilized

plus

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

Make rs1057516279(A;A)

Make rs1057516279(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23909296

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057516279
dbSNP (classic)	rs1057516279
ClinGen	rs1057516279
ebi	rs1057516279
HLI	rs1057516279
Exac	rs1057516279
Gnomad	rs1057516279
Varsome	rs1057516279
LitVar	rs1057516279
Map	rs1057516279
PheGenI	rs1057516279
Biobank	rs1057516279
1000 genomes	rs1057516279
hgdp	rs1057516279
ensembl	rs1057516279
geneview	rs1057516279
scholar	rs1057516279
google	rs1057516279
pharmgkb	rs1057516279
gwascentral	rs1057516279
openSNP	rs1057516279
23andMe	rs1057516279
SNPshot	rs1057516279
SNPdbe	rs1057516279
MSV3d	rs1057516279
GWAS Ctlg	rs1057516279

Max Magnitude

0

ClinVar
Risk	rs1057516279(A;A)
Alt	rs1057516279(A;A)
Reference	Rs1057516279(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.21489260G>A
CLNSRC
CLNACC	RCV000411524.1,