rs587776812

Orientation

plus

Stabilized

minus

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

Make rs587776812(C;T)

Make rs587776812(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

209633028

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs587776812
dbSNP (classic)	rs587776812
ClinGen	rs587776812
ebi	rs587776812
HLI	rs587776812
Exac	rs587776812
Gnomad	rs587776812
Varsome	rs587776812
LitVar	rs587776812
Map	rs587776812
PheGenI	rs587776812
Biobank	rs587776812
1000 genomes	rs587776812
hgdp	rs587776812
ensembl	rs587776812
geneview	rs587776812
scholar	rs587776812
google	rs587776812
pharmgkb	rs587776812
gwascentral	rs587776812
openSNP	rs587776812
23andMe	rs587776812
SNPshot	rs587776812
SNPdbe	rs587776812
MSV3d	rs587776812
GWAS Ctlg	rs587776812

Max Magnitude

0

ClinVar
Risk	Rs587776812(C;C) rs587776812(T;T)
Alt	Rs587776812(C;C) rs587776812(T;T)
Reference	Rs587776812(G;G)
Significance	Pathogenic
Disease	Adult junctional epidermolysis bullosa
Variation	info
Gene	LAMB3
CLNDBN	Adult junctional epidermolysis bullosa
Reversed	1
HGVS	NC_000001.10:g.209806373C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015650.5,