rs1057517395

Orientation

minus

Stabilized

minus

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

Make rs1057517395(-;-)

Make rs1057517395(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209629862

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057517395
dbSNP (classic)	rs1057517395
ClinGen	rs1057517395
ebi	rs1057517395
HLI	rs1057517395
Exac	rs1057517395
Gnomad	rs1057517395
Varsome	rs1057517395
LitVar	rs1057517395
Map	rs1057517395
PheGenI	rs1057517395
Biobank	rs1057517395
1000 genomes	rs1057517395
hgdp	rs1057517395
ensembl	rs1057517395
geneview	rs1057517395
scholar	rs1057517395
google	rs1057517395
pharmgkb	rs1057517395
gwascentral	rs1057517395
openSNP	rs1057517395
23andMe	rs1057517395
SNPshot	rs1057517395
SNPdbe	rs1057517395
MSV3d	rs1057517395
GWAS Ctlg	rs1057517395

Max Magnitude

0

ClinVar
Risk	rs1057517395(-;-)
Alt	rs1057517395(-;-)
Reference	Rs1057517395(A;A)
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.209803207delT
CLNSRC
CLNACC	RCV000410143.1,