rs1057516693

Orientation

minus

Stabilized

minus

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

Make rs1057516693(G;T)

Make rs1057516693(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209633134

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516693
dbSNP (classic)	rs1057516693
ClinGen	rs1057516693
ebi	rs1057516693
HLI	rs1057516693
Exac	rs1057516693
Gnomad	rs1057516693
Varsome	rs1057516693
LitVar	rs1057516693
Map	rs1057516693
PheGenI	rs1057516693
Biobank	rs1057516693
1000 genomes	rs1057516693
hgdp	rs1057516693
ensembl	rs1057516693
geneview	rs1057516693
scholar	rs1057516693
google	rs1057516693
pharmgkb	rs1057516693
gwascentral	rs1057516693
openSNP	rs1057516693
23andMe	rs1057516693
SNPshot	rs1057516693
SNPdbe	rs1057516693
MSV3d	rs1057516693
GWAS Ctlg	rs1057516693

Max Magnitude

0

ClinVar
Risk	rs1057516693(T;T)
Alt	rs1057516693(T;T)
Reference	Rs1057516693(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.209806479C>A
CLNSRC
CLNACC	RCV000410699.1,