rs1057516675

Orientation

minus

Stabilized

minus

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

Make rs1057516675(G;G)

Make rs1057516675(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209637906

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057516675
dbSNP (classic)	rs1057516675
ClinGen	rs1057516675
ebi	rs1057516675
HLI	rs1057516675
Exac	rs1057516675
Gnomad	rs1057516675
Varsome	rs1057516675
LitVar	rs1057516675
Map	rs1057516675
PheGenI	rs1057516675
Biobank	rs1057516675
1000 genomes	rs1057516675
hgdp	rs1057516675
ensembl	rs1057516675
geneview	rs1057516675
scholar	rs1057516675
google	rs1057516675
pharmgkb	rs1057516675
gwascentral	rs1057516675
openSNP	rs1057516675
23andMe	rs1057516675
SNPshot	rs1057516675
SNPdbe	rs1057516675
MSV3d	rs1057516675
GWAS Ctlg	rs1057516675

Max Magnitude

0

ClinVar
Risk	rs1057516675(G;G)
Alt	rs1057516675(G;G)
Reference	Rs1057516675(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.209811251A>C
CLNSRC
CLNACC	RCV000411435.1,