rs1057516838

Orientation

minus

Stabilized

minus

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

Make rs1057516838(C;C)

Make rs1057516838(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209623503

Gene	LAMB3, MIR4260

is a	snp
is	mentioned by
dbSNP	rs1057516838
dbSNP (classic)	rs1057516838
ClinGen	rs1057516838
ebi	rs1057516838
HLI	rs1057516838
Exac	rs1057516838
Gnomad	rs1057516838
Varsome	rs1057516838
LitVar	rs1057516838
Map	rs1057516838
PheGenI	rs1057516838
Biobank	rs1057516838
1000 genomes	rs1057516838
hgdp	rs1057516838
ensembl	rs1057516838
geneview	rs1057516838
scholar	rs1057516838
google	rs1057516838
pharmgkb	rs1057516838
gwascentral	rs1057516838
openSNP	rs1057516838
23andMe	rs1057516838
SNPshot	rs1057516838
SNPdbe	rs1057516838
MSV3d	rs1057516838
GWAS Ctlg	rs1057516838

Max Magnitude

0

ClinVar
Risk	rs1057516838(C;C)
Alt	rs1057516838(C;C)
Reference	Rs1057516838(T;T)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	MIR4260 LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	1
HGVS	NC_000001.10:g.209796848A>G
CLNSRC
CLNACC	RCV000410456.1,