rs1057516806

Orientation

plus

Stabilized

plus

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

Make rs1057516806(-;-)

Make rs1057516806(-;GACA)

Make rs1057516806(GACA;GACA)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183207935

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516806
dbSNP (classic)	rs1057516806
ClinGen	rs1057516806
ebi	rs1057516806
HLI	rs1057516806
Exac	rs1057516806
Gnomad	rs1057516806
Varsome	rs1057516806
LitVar	rs1057516806
Map	rs1057516806
PheGenI	rs1057516806
Biobank	rs1057516806
1000 genomes	rs1057516806
hgdp	rs1057516806
ensembl	rs1057516806
geneview	rs1057516806
scholar	rs1057516806
google	rs1057516806
pharmgkb	rs1057516806
gwascentral	rs1057516806
openSNP	rs1057516806
23andMe	rs1057516806
SNPshot	rs1057516806
SNPdbe	rs1057516806
MSV3d	rs1057516806
GWAS Ctlg	rs1057516806

Max Magnitude

0

ClinVar
Risk	rs1057516806(-;-)
Alt	rs1057516806(-;-)
Reference	Rs1057516806(ACAG;ACAG)
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.183177070_183177073delGACA
CLNSRC
CLNACC	RCV000412328.1,