rs1057516759

Orientation

minus

Stabilized

minus

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

Make rs1057516759(A;A)

Make rs1057516759(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209617519

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516759
dbSNP (classic)	rs1057516759
ClinGen	rs1057516759
ebi	rs1057516759
HLI	rs1057516759
Exac	rs1057516759
Gnomad	rs1057516759
Varsome	rs1057516759
LitVar	rs1057516759
Map	rs1057516759
PheGenI	rs1057516759
Biobank	rs1057516759
1000 genomes	rs1057516759
hgdp	rs1057516759
ensembl	rs1057516759
geneview	rs1057516759
scholar	rs1057516759
google	rs1057516759
pharmgkb	rs1057516759
gwascentral	rs1057516759
openSNP	rs1057516759
23andMe	rs1057516759
SNPshot	rs1057516759
SNPdbe	rs1057516759
MSV3d	rs1057516759
GWAS Ctlg	rs1057516759

Max Magnitude

0

ClinVar
Risk	rs1057516759(A;A)
Alt	rs1057516759(A;A)
Reference	Rs1057516759(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.209790864C>T
CLNSRC
CLNACC	RCV000411623.1,