rs759509443

Orientation

plus

Stabilized

plus

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

Make rs759509443(A;A)

Make rs759509443(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

183208070

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs759509443
dbSNP (classic)	rs759509443
ClinGen	rs759509443
ebi	rs759509443
HLI	rs759509443
Exac	rs759509443
Gnomad	rs759509443
Varsome	rs759509443
LitVar	rs759509443
Map	rs759509443
PheGenI	rs759509443
Biobank	rs759509443
1000 genomes	rs759509443
hgdp	rs759509443
ensembl	rs759509443
geneview	rs759509443
scholar	rs759509443
google	rs759509443
pharmgkb	rs759509443
gwascentral	rs759509443
openSNP	rs759509443
23andMe	rs759509443
SNPshot	rs759509443
SNPdbe	rs759509443
MSV3d	rs759509443
GWAS Ctlg	rs759509443

Max Magnitude

0

ClinVar
Risk	rs759509443(A;A)
Alt	rs759509443(A;A)
Reference	Rs759509443(G;G)
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.183177205G>A
CLNSRC
CLNACC	RCV000411347.1,