rs121912486

Orientation

minus

Stabilized

minus

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

Make rs121912486(C;C)

Make rs121912486(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209633102

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs121912486
dbSNP (classic)	rs121912486
ClinGen	rs121912486
ebi	rs121912486
HLI	rs121912486
Exac	rs121912486
Gnomad	rs121912486
Varsome	rs121912486
LitVar	rs121912486
Map	rs121912486
PheGenI	rs121912486
Biobank	rs121912486
1000 genomes	rs121912486
hgdp	rs121912486
ensembl	rs121912486
geneview	rs121912486
scholar	rs121912486
google	rs121912486
pharmgkb	rs121912486
gwascentral	rs121912486
openSNP	rs121912486
23andMe	rs121912486
SNPshot	rs121912486
SNPdbe	rs121912486
MSV3d	rs121912486
GWAS Ctlg	rs121912486

Max Magnitude

0

OMIM	150310
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912486(C;C)
Alt	rs121912486(C;C)
Reference	Rs121912486(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.209806447C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015651.5,