rs1057516383

Orientation

plus

Stabilized

plus

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

Make rs1057516383(-;-)

Make rs1057516383(-;CTGC)

Make rs1057516383(CTGC;CTGC)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183235663

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516383
dbSNP (classic)	rs1057516383
ClinGen	rs1057516383
ebi	rs1057516383
HLI	rs1057516383
Exac	rs1057516383
Gnomad	rs1057516383
Varsome	rs1057516383
LitVar	rs1057516383
Map	rs1057516383
PheGenI	rs1057516383
Biobank	rs1057516383
1000 genomes	rs1057516383
hgdp	rs1057516383
ensembl	rs1057516383
geneview	rs1057516383
scholar	rs1057516383
google	rs1057516383
pharmgkb	rs1057516383
gwascentral	rs1057516383
openSNP	rs1057516383
23andMe	rs1057516383
SNPshot	rs1057516383
SNPdbe	rs1057516383
MSV3d	rs1057516383
GWAS Ctlg	rs1057516383

Max Magnitude

0

ClinVar
Risk	rs1057516383(-;-)
Alt	rs1057516383(-;-)
Reference	Rs1057516383(CCTG;CCTG)
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.183204798_183204801delCTGC
CLNSRC
CLNACC	RCV000410161.1,