rs1057517353

Orientation

plus

Stabilized

plus

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

Make rs1057517353(-;ATGGA)

Make rs1057517353(ATGGA;ATGGA)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183207951

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057517353
dbSNP (classic)	rs1057517353
ClinGen	rs1057517353
ebi	rs1057517353
HLI	rs1057517353
Exac	rs1057517353
Gnomad	rs1057517353
Varsome	rs1057517353
LitVar	rs1057517353
Map	rs1057517353
PheGenI	rs1057517353
Biobank	rs1057517353
1000 genomes	rs1057517353
hgdp	rs1057517353
ensembl	rs1057517353
geneview	rs1057517353
scholar	rs1057517353
google	rs1057517353
pharmgkb	rs1057517353
gwascentral	rs1057517353
openSNP	rs1057517353
23andMe	rs1057517353
SNPshot	rs1057517353
SNPdbe	rs1057517353
MSV3d	rs1057517353
GWAS Ctlg	rs1057517353

Max Magnitude

0

ClinVar
Risk	rs1057517353(AATGG;AATGG)
Alt	rs1057517353(AATGG;AATGG)
Reference	Rs1057517353(-;-)
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.183177082_183177086dupATGGA
CLNSRC
CLNACC	RCV000409895.1,