rs1057516569

Orientation

plus

Stabilized

plus

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

Make rs1057516569(-;-)

Make rs1057516569(-;AG)

Make rs1057516569(AG;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183232299

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516569
dbSNP (classic)	rs1057516569
ClinGen	rs1057516569
ebi	rs1057516569
HLI	rs1057516569
Exac	rs1057516569
Gnomad	rs1057516569
Varsome	rs1057516569
LitVar	rs1057516569
Map	rs1057516569
PheGenI	rs1057516569
Biobank	rs1057516569
1000 genomes	rs1057516569
hgdp	rs1057516569
ensembl	rs1057516569
geneview	rs1057516569
scholar	rs1057516569
google	rs1057516569
pharmgkb	rs1057516569
gwascentral	rs1057516569
openSNP	rs1057516569
23andMe	rs1057516569
SNPshot	rs1057516569
SNPdbe	rs1057516569
MSV3d	rs1057516569
GWAS Ctlg	rs1057516569

Max Magnitude

0

ClinVar
Risk	rs1057516569(-;-)
Alt	rs1057516569(-;-)
Reference	Rs1057516569(GA;GA)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMC2
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000001.10:g.183201434_183201435delAG
CLNSRC
CLNACC	RCV000411591.1,