rs146794392

Orientation

plus

Stabilized

plus

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

Make rs146794392(A;A)

Make rs146794392(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

209623999

Gene	LAMB3, MIR4260

is a	snp
is	mentioned by
dbSNP	rs146794392
dbSNP (classic)	rs146794392
ClinGen	rs146794392
ebi	rs146794392
HLI	rs146794392
Exac	rs146794392
Gnomad	rs146794392
Varsome	rs146794392
LitVar	rs146794392
Map	rs146794392
PheGenI	rs146794392
Biobank	rs146794392
1000 genomes	rs146794392
hgdp	rs146794392
ensembl	rs146794392
geneview	rs146794392
scholar	rs146794392
google	rs146794392
pharmgkb	rs146794392
gwascentral	rs146794392
openSNP	rs146794392
23andMe	rs146794392
SNPshot	rs146794392
SNPdbe	rs146794392
MSV3d	rs146794392
GWAS Ctlg	rs146794392

Max Magnitude

0

ClinVar
Risk	rs146794392(A;A)
Alt	rs146794392(A;A)
Reference	Rs146794392(G;G)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	MIR4260 LAMB3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000001.10:g.209797344G>A
CLNSRC
CLNACC	RCV000169424.1,