rs587776814

Orientation

plus

Stabilized

minus

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

Make rs587776814(C;T)

Make rs587776814(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

209632777

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs587776814
dbSNP (classic)	rs587776814
ClinGen	rs587776814
ebi	rs587776814
HLI	rs587776814
Exac	rs587776814
Gnomad	rs587776814
Varsome	rs587776814
LitVar	rs587776814
Map	rs587776814
PheGenI	rs587776814
Biobank	rs587776814
1000 genomes	rs587776814
hgdp	rs587776814
ensembl	rs587776814
geneview	rs587776814
scholar	rs587776814
google	rs587776814
pharmgkb	rs587776814
gwascentral	rs587776814
openSNP	rs587776814
23andMe	rs587776814
SNPshot	rs587776814
SNPdbe	rs587776814
MSV3d	rs587776814
GWAS Ctlg	rs587776814

Max Magnitude

0

ClinVar
Risk	Rs587776814(C;C) rs587776814(T;T)
Alt	Rs587776814(C;C) rs587776814(T;T)
Reference	Rs587776814(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.209806122C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015654.6,