rs1057516539

Orientation

minus

Stabilized

minus

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

Make rs1057516539(A;A)

Make rs1057516539(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209633069

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516539
dbSNP (classic)	rs1057516539
ClinGen	rs1057516539
ebi	rs1057516539
HLI	rs1057516539
Exac	rs1057516539
Gnomad	rs1057516539
Varsome	rs1057516539
LitVar	rs1057516539
Map	rs1057516539
PheGenI	rs1057516539
Biobank	rs1057516539
1000 genomes	rs1057516539
hgdp	rs1057516539
ensembl	rs1057516539
geneview	rs1057516539
scholar	rs1057516539
google	rs1057516539
pharmgkb	rs1057516539
gwascentral	rs1057516539
openSNP	rs1057516539
23andMe	rs1057516539
SNPshot	rs1057516539
SNPdbe	rs1057516539
MSV3d	rs1057516539
GWAS Ctlg	rs1057516539

Max Magnitude

0

ClinVar
Risk	rs1057516539(A;A)
Alt	rs1057516539(A;A)
Reference	Rs1057516539(G;G)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	1
HGVS	NC_000001.10:g.209806414C>T
CLNSRC
CLNACC	RCV000411875.1,