rs1057516584

Orientation

plus

Stabilized

plus

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

Make rs1057516584(C;C)

Make rs1057516584(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23899067

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057516584
dbSNP (classic)	rs1057516584
ClinGen	rs1057516584
ebi	rs1057516584
HLI	rs1057516584
Exac	rs1057516584
Gnomad	rs1057516584
Varsome	rs1057516584
LitVar	rs1057516584
Map	rs1057516584
PheGenI	rs1057516584
Biobank	rs1057516584
1000 genomes	rs1057516584
hgdp	rs1057516584
ensembl	rs1057516584
geneview	rs1057516584
scholar	rs1057516584
google	rs1057516584
pharmgkb	rs1057516584
gwascentral	rs1057516584
openSNP	rs1057516584
23andMe	rs1057516584
SNPshot	rs1057516584
SNPdbe	rs1057516584
MSV3d	rs1057516584
GWAS Ctlg	rs1057516584

Max Magnitude

0

ClinVar
Risk	rs1057516584(C;C)
Alt	rs1057516584(C;C)
Reference	Rs1057516584(T;T)
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.21479031T>C
CLNSRC
CLNACC	RCV000409185.1,