rs137852757

Orientation

plus

Stabilized

plus

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

Make rs137852757(C;T)

Make rs137852757(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23907639

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs137852757
dbSNP (classic)	rs137852757
ClinGen	rs137852757
ebi	rs137852757
HLI	rs137852757
Exac	rs137852757
Gnomad	rs137852757
Varsome	rs137852757
LitVar	rs137852757
Map	rs137852757
PheGenI	rs137852757
Biobank	rs137852757
1000 genomes	rs137852757
hgdp	rs137852757
ensembl	rs137852757
geneview	rs137852757
scholar	rs137852757
google	rs137852757
pharmgkb	rs137852757
gwascentral	rs137852757
openSNP	rs137852757
23andMe	rs137852757
SNPshot	rs137852757
SNPdbe	rs137852757
MSV3d	rs137852757
GWAS Ctlg	rs137852757

Max Magnitude

0

OMIM	600805
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852757(T;T)
Alt	rs137852757(T;T)
Reference	Rs137852757(C;C)
Significance	Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMA3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000018.9:g.21487603C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009337.2,