rs1057517159

Orientation

plus

Stabilized

plus

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

Make rs1057517159(-;G)

Make rs1057517159(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183240117

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs1057517159
dbSNP (classic)	rs1057517159
ClinGen	rs1057517159
ebi	rs1057517159
HLI	rs1057517159
Exac	rs1057517159
Gnomad	rs1057517159
Varsome	rs1057517159
LitVar	rs1057517159
Map	rs1057517159
PheGenI	rs1057517159
Biobank	rs1057517159
1000 genomes	rs1057517159
hgdp	rs1057517159
ensembl	rs1057517159
geneview	rs1057517159
scholar	rs1057517159
google	rs1057517159
pharmgkb	rs1057517159
gwascentral	rs1057517159
openSNP	rs1057517159
23andMe	rs1057517159
SNPshot	rs1057517159
SNPdbe	rs1057517159
MSV3d	rs1057517159
GWAS Ctlg	rs1057517159

Max Magnitude

0

ClinVar
Risk	rs1057517159(G;G)
Alt	rs1057517159(G;G)
Reference	Rs1057517159(-;-)
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.183209252dupG
CLNSRC
CLNACC	RCV000409389.1,