rs121912485

Orientation

minus

Stabilized

minus

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

Make rs121912485(C;T)

Make rs121912485(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209618555

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs121912485
dbSNP (classic)	rs121912485
ClinGen	rs121912485
ebi	rs121912485
HLI	rs121912485
Exac	rs121912485
Gnomad	rs121912485
Varsome	rs121912485
LitVar	rs121912485
Map	rs121912485
PheGenI	rs121912485
Biobank	rs121912485
1000 genomes	rs121912485
hgdp	rs121912485
ensembl	rs121912485
geneview	rs121912485
scholar	rs121912485
google	rs121912485
pharmgkb	rs121912485
gwascentral	rs121912485
openSNP	rs121912485
23andMe	rs121912485
SNPshot	rs121912485
SNPdbe	rs121912485
MSV3d	rs121912485
GWAS Ctlg	rs121912485

Max Magnitude

0

OMIM	150310
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912485(T;T)
Alt	rs121912485(T;T)
Reference	Rs121912485(C;C)
Significance	Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	1
HGVS	NC_000001.10:g.209791900G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015647.27,