rs1057516512

Orientation

plus

Stabilized

plus

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

Make rs1057516512(C;T)

Make rs1057516512(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23873135

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057516512
dbSNP (classic)	rs1057516512
ClinGen	rs1057516512
ebi	rs1057516512
HLI	rs1057516512
Exac	rs1057516512
Gnomad	rs1057516512
Varsome	rs1057516512
LitVar	rs1057516512
Map	rs1057516512
PheGenI	rs1057516512
Biobank	rs1057516512
1000 genomes	rs1057516512
hgdp	rs1057516512
ensembl	rs1057516512
geneview	rs1057516512
scholar	rs1057516512
google	rs1057516512
pharmgkb	rs1057516512
gwascentral	rs1057516512
openSNP	rs1057516512
23andMe	rs1057516512
SNPshot	rs1057516512
SNPdbe	rs1057516512
MSV3d	rs1057516512
GWAS Ctlg	rs1057516512

Max Magnitude

0

ClinVar
Risk	rs1057516512(T;T)
Alt	rs1057516512(T;T)
Reference	Rs1057516512(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.21453099C>T
CLNSRC
CLNACC	RCV000409262.1,