rs1057517314

Orientation

plus

Stabilized

plus

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

Make rs1057517314(-;T)

Make rs1057517314(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23898812

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057517314
dbSNP (classic)	rs1057517314
ClinGen	rs1057517314
ebi	rs1057517314
HLI	rs1057517314
Exac	rs1057517314
Gnomad	rs1057517314
Varsome	rs1057517314
LitVar	rs1057517314
Map	rs1057517314
PheGenI	rs1057517314
Biobank	rs1057517314
1000 genomes	rs1057517314
hgdp	rs1057517314
ensembl	rs1057517314
geneview	rs1057517314
scholar	rs1057517314
google	rs1057517314
pharmgkb	rs1057517314
gwascentral	rs1057517314
openSNP	rs1057517314
23andMe	rs1057517314
SNPshot	rs1057517314
SNPdbe	rs1057517314
MSV3d	rs1057517314
GWAS Ctlg	rs1057517314

Max Magnitude

0

ClinVar
Risk	rs1057517314(T;T)
Alt	rs1057517314(T;T)
Reference	Rs1057517314(-;-)
Significance	Probable-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.21478776dupT
CLNSRC
CLNACC	RCV000412128.1,