rs1057517272

Orientation

plus

Stabilized

plus

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

Make rs1057517272(C;C)

Make rs1057517272(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23949764

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057517272
dbSNP (classic)	rs1057517272
ClinGen	rs1057517272
ebi	rs1057517272
HLI	rs1057517272
Exac	rs1057517272
Gnomad	rs1057517272
Varsome	rs1057517272
LitVar	rs1057517272
Map	rs1057517272
PheGenI	rs1057517272
Biobank	rs1057517272
1000 genomes	rs1057517272
hgdp	rs1057517272
ensembl	rs1057517272
geneview	rs1057517272
scholar	rs1057517272
google	rs1057517272
pharmgkb	rs1057517272
gwascentral	rs1057517272
openSNP	rs1057517272
23andMe	rs1057517272
SNPshot	rs1057517272
SNPdbe	rs1057517272
MSV3d	rs1057517272
GWAS Ctlg	rs1057517272

Max Magnitude

0

ClinVar
Risk	rs1057517272(C;C)
Alt	rs1057517272(C;C)
Reference	Rs1057517272(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.21529728G>C
CLNSRC
CLNACC	RCV000412368.1,