rs1057516764

Orientation

plus

Stabilized

plus

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

Make rs1057516764(A;A)

Make rs1057516764(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23928765

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057516764
dbSNP (classic)	rs1057516764
ClinGen	rs1057516764
ebi	rs1057516764
HLI	rs1057516764
Exac	rs1057516764
Gnomad	rs1057516764
Varsome	rs1057516764
LitVar	rs1057516764
Map	rs1057516764
PheGenI	rs1057516764
Biobank	rs1057516764
1000 genomes	rs1057516764
hgdp	rs1057516764
ensembl	rs1057516764
geneview	rs1057516764
scholar	rs1057516764
google	rs1057516764
pharmgkb	rs1057516764
gwascentral	rs1057516764
openSNP	rs1057516764
23andMe	rs1057516764
SNPshot	rs1057516764
SNPdbe	rs1057516764
MSV3d	rs1057516764
GWAS Ctlg	rs1057516764

Max Magnitude

0

ClinVar
Risk	rs1057516764(A;A)
Alt	rs1057516764(A;A)
Reference	Rs1057516764(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.21508729G>A
CLNSRC
CLNACC	RCV000412371.1,