rs1057516486

Orientation

minus

Stabilized

minus

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

Make rs1057516486(-;-)

Make rs1057516486(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209623517

Gene	LAMB3, MIR4260

is a	snp
is	mentioned by
dbSNP	rs1057516486
dbSNP (classic)	rs1057516486
ClinGen	rs1057516486
ebi	rs1057516486
HLI	rs1057516486
Exac	rs1057516486
Gnomad	rs1057516486
Varsome	rs1057516486
LitVar	rs1057516486
Map	rs1057516486
PheGenI	rs1057516486
Biobank	rs1057516486
1000 genomes	rs1057516486
hgdp	rs1057516486
ensembl	rs1057516486
geneview	rs1057516486
scholar	rs1057516486
google	rs1057516486
pharmgkb	rs1057516486
gwascentral	rs1057516486
openSNP	rs1057516486
23andMe	rs1057516486
SNPshot	rs1057516486
SNPdbe	rs1057516486
MSV3d	rs1057516486
GWAS Ctlg	rs1057516486

Max Magnitude

0

ClinVar
Risk	rs1057516486(-;-)
Alt	rs1057516486(-;-)
Reference	Rs1057516486(C;C)
Significance	Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz not provided
Variation	info
Gene	MIR4260 LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz not provided
Reversed	1
HGVS	NC_000001.10:g.209796862delG
CLNSRC
CLNACC	RCV000410707.1, RCV000412898.1,