rs121912484

Orientation

minus

Stabilized

minus

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

Make rs121912484(A;A)

Make rs121912484(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209625794

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs121912484
dbSNP (classic)	rs121912484
ClinGen	rs121912484
ebi	rs121912484
HLI	rs121912484
Exac	rs121912484
Gnomad	rs121912484
Varsome	rs121912484
LitVar	rs121912484
Map	rs121912484
PheGenI	rs121912484
Biobank	rs121912484
1000 genomes	rs121912484
hgdp	rs121912484
ensembl	rs121912484
geneview	rs121912484
scholar	rs121912484
google	rs121912484
pharmgkb	rs121912484
gwascentral	rs121912484
openSNP	rs121912484
23andMe	rs121912484
SNPshot	rs121912484
SNPdbe	rs121912484
MSV3d	rs121912484
GWAS Ctlg	rs121912484

Max Magnitude

0

OMIM	150310
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912484(A;A)
Alt	rs121912484(A;A)
Reference	Rs121912484(G;G)
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.209799139C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015646.26,