rs1057516280

Orientation

plus

Stabilized

plus

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

Make rs1057516280(C;C)

Make rs1057516280(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23903127

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057516280
dbSNP (classic)	rs1057516280
ClinGen	rs1057516280
ebi	rs1057516280
HLI	rs1057516280
Exac	rs1057516280
Gnomad	rs1057516280
Varsome	rs1057516280
LitVar	rs1057516280
Map	rs1057516280
PheGenI	rs1057516280
Biobank	rs1057516280
1000 genomes	rs1057516280
hgdp	rs1057516280
ensembl	rs1057516280
geneview	rs1057516280
scholar	rs1057516280
google	rs1057516280
pharmgkb	rs1057516280
gwascentral	rs1057516280
openSNP	rs1057516280
23andMe	rs1057516280
SNPshot	rs1057516280
SNPdbe	rs1057516280
MSV3d	rs1057516280
GWAS Ctlg	rs1057516280

Max Magnitude

0

ClinVar
Risk	rs1057516280(C;C)
Alt	rs1057516280(C;C)
Reference	Rs1057516280(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.21483091T>C
CLNSRC
CLNACC	RCV000409246.1,