rs1057517258

Orientation

minus

Stabilized

minus

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

Make rs1057517258(A;G)

Make rs1057517258(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209634640

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs1057517258
dbSNP (classic)	rs1057517258
ClinGen	rs1057517258
ebi	rs1057517258
HLI	rs1057517258
Exac	rs1057517258
Gnomad	rs1057517258
Varsome	rs1057517258
LitVar	rs1057517258
Map	rs1057517258
PheGenI	rs1057517258
Biobank	rs1057517258
1000 genomes	rs1057517258
hgdp	rs1057517258
ensembl	rs1057517258
geneview	rs1057517258
scholar	rs1057517258
google	rs1057517258
pharmgkb	rs1057517258
gwascentral	rs1057517258
openSNP	rs1057517258
23andMe	rs1057517258
SNPshot	rs1057517258
SNPdbe	rs1057517258
MSV3d	rs1057517258
GWAS Ctlg	rs1057517258

Max Magnitude

0

ClinVar
Risk	rs1057517258(G;G)
Alt	rs1057517258(G;G)
Reference	Rs1057517258(A;A)
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.209807985T>C
CLNSRC
CLNACC	RCV000412253.1,