rs1057517312

Orientation

minus

Stabilized

minus

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

Make rs1057517312(C;C)

Make rs1057517312(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209638532

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057517312
dbSNP (classic)	rs1057517312
ClinGen	rs1057517312
ebi	rs1057517312
HLI	rs1057517312
Exac	rs1057517312
Gnomad	rs1057517312
Varsome	rs1057517312
LitVar	rs1057517312
Map	rs1057517312
PheGenI	rs1057517312
Biobank	rs1057517312
1000 genomes	rs1057517312
hgdp	rs1057517312
ensembl	rs1057517312
geneview	rs1057517312
scholar	rs1057517312
google	rs1057517312
pharmgkb	rs1057517312
gwascentral	rs1057517312
openSNP	rs1057517312
23andMe	rs1057517312
SNPshot	rs1057517312
SNPdbe	rs1057517312
MSV3d	rs1057517312
GWAS Ctlg	rs1057517312

Max Magnitude

0

ClinVar
Risk	rs1057517312(C;C)
Alt	rs1057517312(C;C)
Reference	Rs1057517312(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.209811877A>G
CLNSRC
CLNACC	RCV000409851.1,