rs1057516935

Orientation

plus

Stabilized

plus

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

Make rs1057516935(-;-)

Make rs1057516935(-;TC)

Make rs1057516935(TC;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183239423

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057516935
dbSNP (classic)	rs1057516935
ClinGen	rs1057516935
ebi	rs1057516935
HLI	rs1057516935
Exac	rs1057516935
Gnomad	rs1057516935
Varsome	rs1057516935
LitVar	rs1057516935
Map	rs1057516935
PheGenI	rs1057516935
Biobank	rs1057516935
1000 genomes	rs1057516935
hgdp	rs1057516935
ensembl	rs1057516935
geneview	rs1057516935
scholar	rs1057516935
google	rs1057516935
pharmgkb	rs1057516935
gwascentral	rs1057516935
openSNP	rs1057516935
23andMe	rs1057516935
SNPshot	rs1057516935
SNPdbe	rs1057516935
MSV3d	rs1057516935
GWAS Ctlg	rs1057516935

Max Magnitude

0

ClinVar
Risk	rs1057516935(-;-)
Alt	rs1057516935(-;-)
Reference	Rs1057516935(CT;CT)
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.183208558_183208559delTC
CLNSRC
CLNACC	RCV000411025.1,