rs371267954

Orientation

plus

Stabilized

plus

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

Make rs371267954(C;C)

Make rs371267954(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

209650120

Gene

LAMB3

is a	snp
is	mentioned by
dbSNP	rs371267954
dbSNP (classic)	rs371267954
ClinGen	rs371267954
ebi	rs371267954
HLI	rs371267954
Exac	rs371267954
Gnomad	rs371267954
Varsome	rs371267954
LitVar	rs371267954
Map	rs371267954
PheGenI	rs371267954
Biobank	rs371267954
1000 genomes	rs371267954
hgdp	rs371267954
ensembl	rs371267954
geneview	rs371267954
scholar	rs371267954
google	rs371267954
pharmgkb	rs371267954
gwascentral	rs371267954
openSNP	rs371267954
23andMe	rs371267954
SNPshot	rs371267954
SNPdbe	rs371267954
MSV3d	rs371267954
GWAS Ctlg	rs371267954

Max Magnitude

0

ClinVar
Risk	rs371267954(C;C)
Alt	rs371267954(C;C)
Reference	Rs371267954(T;T)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000001.10:g.209823465T>C
CLNSRC
CLNACC	RCV000169049.1,