rs1057516316

Orientation

minus

Stabilized

minus

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

Make rs1057516316(A;A)

Make rs1057516316(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209629840

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516316
dbSNP (classic)	rs1057516316
ClinGen	rs1057516316
ebi	rs1057516316
HLI	rs1057516316
Exac	rs1057516316
Gnomad	rs1057516316
Varsome	rs1057516316
LitVar	rs1057516316
Map	rs1057516316
PheGenI	rs1057516316
Biobank	rs1057516316
1000 genomes	rs1057516316
hgdp	rs1057516316
ensembl	rs1057516316
geneview	rs1057516316
scholar	rs1057516316
google	rs1057516316
pharmgkb	rs1057516316
gwascentral	rs1057516316
openSNP	rs1057516316
23andMe	rs1057516316
SNPshot	rs1057516316
SNPdbe	rs1057516316
MSV3d	rs1057516316
GWAS Ctlg	rs1057516316

Max Magnitude

0

ClinVar
Risk	rs1057516316(A;A)
Alt	rs1057516316(A;A)
Reference	Rs1057516316(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.209803185A>T
CLNSRC
CLNACC	RCV000412071.1,