rs1057517367

Orientation

plus

Stabilized

plus

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

Make rs1057517367(-;-)

Make rs1057517367(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23882028

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057517367
dbSNP (classic)	rs1057517367
ClinGen	rs1057517367
ebi	rs1057517367
HLI	rs1057517367
Exac	rs1057517367
Gnomad	rs1057517367
Varsome	rs1057517367
LitVar	rs1057517367
Map	rs1057517367
PheGenI	rs1057517367
Biobank	rs1057517367
1000 genomes	rs1057517367
hgdp	rs1057517367
ensembl	rs1057517367
geneview	rs1057517367
scholar	rs1057517367
google	rs1057517367
pharmgkb	rs1057517367
gwascentral	rs1057517367
openSNP	rs1057517367
23andMe	rs1057517367
SNPshot	rs1057517367
SNPdbe	rs1057517367
MSV3d	rs1057517367
GWAS Ctlg	rs1057517367

Max Magnitude

0

ClinVar
Risk	rs1057517367(-;-)
Alt	rs1057517367(-;-)
Reference	Rs1057517367(A;A)
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.21461992delA
CLNSRC
CLNACC	RCV000409390.1,