rs1057517290

Orientation

minus

Stabilized

minus

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

Make rs1057517290(-;TG)

Make rs1057517290(TG;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209629838

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057517290
dbSNP (classic)	rs1057517290
ClinGen	rs1057517290
ebi	rs1057517290
HLI	rs1057517290
Exac	rs1057517290
Gnomad	rs1057517290
Varsome	rs1057517290
LitVar	rs1057517290
Map	rs1057517290
PheGenI	rs1057517290
Biobank	rs1057517290
1000 genomes	rs1057517290
hgdp	rs1057517290
ensembl	rs1057517290
geneview	rs1057517290
scholar	rs1057517290
google	rs1057517290
pharmgkb	rs1057517290
gwascentral	rs1057517290
openSNP	rs1057517290
23andMe	rs1057517290
SNPshot	rs1057517290
SNPdbe	rs1057517290
MSV3d	rs1057517290
GWAS Ctlg	rs1057517290

Max Magnitude

0

ClinVar
Risk	rs1057517290(TG;TG)
Alt	rs1057517290(TG;TG)
Reference	Rs1057517290(-;-)
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.209803184_209803185dupCA
CLNSRC
CLNACC	RCV000410525.1,