rs1057517440

Orientation

plus

Stabilized

plus

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

Make rs1057517440(-;-)

Make rs1057517440(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23950092

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057517440
dbSNP (classic)	rs1057517440
ClinGen	rs1057517440
ebi	rs1057517440
HLI	rs1057517440
Exac	rs1057517440
Gnomad	rs1057517440
Varsome	rs1057517440
LitVar	rs1057517440
Map	rs1057517440
PheGenI	rs1057517440
Biobank	rs1057517440
1000 genomes	rs1057517440
hgdp	rs1057517440
ensembl	rs1057517440
geneview	rs1057517440
scholar	rs1057517440
google	rs1057517440
pharmgkb	rs1057517440
gwascentral	rs1057517440
openSNP	rs1057517440
23andMe	rs1057517440
SNPshot	rs1057517440
SNPdbe	rs1057517440
MSV3d	rs1057517440
GWAS Ctlg	rs1057517440

Max Magnitude

0

ClinVar
Risk	rs1057517440(-;-)
Alt	rs1057517440(-;-)
Reference	Rs1057517440(C;C)
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.21530056delC
CLNSRC
CLNACC	RCV000410296.1,