rs1057516822

Orientation

minus

Stabilized

minus

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

Make rs1057516822(-;-)

Make rs1057516822(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209623966

Gene	LAMB3, MIR4260

is a	snp
is	mentioned by
dbSNP	rs1057516822
dbSNP (classic)	rs1057516822
ClinGen	rs1057516822
ebi	rs1057516822
HLI	rs1057516822
Exac	rs1057516822
Gnomad	rs1057516822
Varsome	rs1057516822
LitVar	rs1057516822
Map	rs1057516822
PheGenI	rs1057516822
Biobank	rs1057516822
1000 genomes	rs1057516822
hgdp	rs1057516822
ensembl	rs1057516822
geneview	rs1057516822
scholar	rs1057516822
google	rs1057516822
pharmgkb	rs1057516822
gwascentral	rs1057516822
openSNP	rs1057516822
23andMe	rs1057516822
SNPshot	rs1057516822
SNPdbe	rs1057516822
MSV3d	rs1057516822
GWAS Ctlg	rs1057516822

Max Magnitude

0

ClinVar
Risk	rs1057516822(-;-)
Alt	rs1057516822(-;-)
Reference	Rs1057516822(C;C)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	MIR4260 LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	1
HGVS	NC_000001.10:g.209797311delG
CLNSRC
CLNACC	RCV000411821.1,