rs121912487

Orientation

minus

Stabilized

minus

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

Make rs121912487(A;C)

Make rs121912487(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

209633079

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs121912487
dbSNP (classic)	rs121912487
ClinGen	rs121912487
ebi	rs121912487
HLI	rs121912487
Exac	rs121912487
Gnomad	rs121912487
Varsome	rs121912487
LitVar	rs121912487
Map	rs121912487
PheGenI	rs121912487
Biobank	rs121912487
1000 genomes	rs121912487
hgdp	rs121912487
ensembl	rs121912487
geneview	rs121912487
scholar	rs121912487
google	rs121912487
pharmgkb	rs121912487
gwascentral	rs121912487
openSNP	rs121912487
23andMe	rs121912487
SNPshot	rs121912487
SNPdbe	rs121912487
MSV3d	rs121912487
GWAS Ctlg	rs121912487

Max Magnitude

0

OMIM	150310
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121912487(C;C)
Alt	rs121912487(C;C)
Reference	Rs121912487(A;A)
Significance	Pathogenic
Disease	Adult junctional epidermolysis bullosa
Variation	info
Gene	LAMB3
CLNDBN	Adult junctional epidermolysis bullosa
Reversed	1
HGVS	NC_000001.10:g.209806424T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015653.5,