rs121912483

Orientation

minus

Stabilized

minus

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

Make rs121912483(C;T)

Make rs121912483(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209634515

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs121912483
dbSNP (classic)	rs121912483
ClinGen	rs121912483
ebi	rs121912483
HLI	rs121912483
Exac	rs121912483
Gnomad	rs121912483
Varsome	rs121912483
LitVar	rs121912483
Map	rs121912483
PheGenI	rs121912483
Biobank	rs121912483
1000 genomes	rs121912483
hgdp	rs121912483
ensembl	rs121912483
geneview	rs121912483
scholar	rs121912483
google	rs121912483
pharmgkb	rs121912483
gwascentral	rs121912483
openSNP	rs121912483
23andMe	rs121912483
SNPshot	rs121912483
SNPdbe	rs121912483
MSV3d	rs121912483
GWAS Ctlg	rs121912483

Max Magnitude

0

OMIM	150310
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912483(T;T)
Alt	rs121912483(T;T)
Reference	Rs121912483(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.209807860G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015645.28,