rs1057517023

Orientation

plus

Stabilized

plus

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

Make rs1057517023(G;T)

Make rs1057517023(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23876408

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057517023
dbSNP (classic)	rs1057517023
ClinGen	rs1057517023
ebi	rs1057517023
HLI	rs1057517023
Exac	rs1057517023
Gnomad	rs1057517023
Varsome	rs1057517023
LitVar	rs1057517023
Map	rs1057517023
PheGenI	rs1057517023
Biobank	rs1057517023
1000 genomes	rs1057517023
hgdp	rs1057517023
ensembl	rs1057517023
geneview	rs1057517023
scholar	rs1057517023
google	rs1057517023
pharmgkb	rs1057517023
gwascentral	rs1057517023
openSNP	rs1057517023
23andMe	rs1057517023
SNPshot	rs1057517023
SNPdbe	rs1057517023
MSV3d	rs1057517023
GWAS Ctlg	rs1057517023

Max Magnitude

0

ClinVar
Risk	rs1057517023(T;T)
Alt	rs1057517023(T;T)
Reference	Rs1057517023(G;G)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMA3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000018.9:g.21456372G>T
CLNSRC
CLNACC	RCV000411213.1,