rs1057516809

Orientation

minus

Stabilized

minus

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

Make rs1057516809(A;A)

Make rs1057516809(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209630688

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516809
dbSNP (classic)	rs1057516809
ClinGen	rs1057516809
ebi	rs1057516809
HLI	rs1057516809
Exac	rs1057516809
Gnomad	rs1057516809
Varsome	rs1057516809
LitVar	rs1057516809
Map	rs1057516809
PheGenI	rs1057516809
Biobank	rs1057516809
1000 genomes	rs1057516809
hgdp	rs1057516809
ensembl	rs1057516809
geneview	rs1057516809
scholar	rs1057516809
google	rs1057516809
pharmgkb	rs1057516809
gwascentral	rs1057516809
openSNP	rs1057516809
23andMe	rs1057516809
SNPshot	rs1057516809
SNPdbe	rs1057516809
MSV3d	rs1057516809
GWAS Ctlg	rs1057516809

Max Magnitude

0

ClinVar
Risk	rs1057516809(A;A)
Alt	rs1057516809(A;A)
Reference	Rs1057516809(T;T)
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.209804033A>T
CLNSRC
CLNACC	RCV000409210.1,