rs1057516219

Orientation

minus

Stabilized

minus

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

Make rs1057516219(-;G)

Make rs1057516219(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209625800

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516219
dbSNP (classic)	rs1057516219
ClinGen	rs1057516219
ebi	rs1057516219
HLI	rs1057516219
Exac	rs1057516219
Gnomad	rs1057516219
Varsome	rs1057516219
LitVar	rs1057516219
Map	rs1057516219
PheGenI	rs1057516219
Biobank	rs1057516219
1000 genomes	rs1057516219
hgdp	rs1057516219
ensembl	rs1057516219
geneview	rs1057516219
scholar	rs1057516219
google	rs1057516219
pharmgkb	rs1057516219
gwascentral	rs1057516219
openSNP	rs1057516219
23andMe	rs1057516219
SNPshot	rs1057516219
SNPdbe	rs1057516219
MSV3d	rs1057516219
GWAS Ctlg	rs1057516219

Max Magnitude

0

ClinVar
Risk	rs1057516219(G;G)
Alt	rs1057516219(G;G)
Reference	Rs1057516219(-;-)
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.209799146dupC
CLNSRC
CLNACC	RCV000410580.1,