rs1057517207

Orientation

minus

Stabilized

minus

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

Make rs1057517207(C;T)

Make rs1057517207(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

209623693

Gene	LAMB3, MIR4260

is a	snp
is	mentioned by
dbSNP	rs1057517207
dbSNP (classic)	rs1057517207
ClinGen	rs1057517207
ebi	rs1057517207
HLI	rs1057517207
Exac	rs1057517207
Gnomad	rs1057517207
Varsome	rs1057517207
LitVar	rs1057517207
Map	rs1057517207
PheGenI	rs1057517207
Biobank	rs1057517207
1000 genomes	rs1057517207
hgdp	rs1057517207
ensembl	rs1057517207
geneview	rs1057517207
scholar	rs1057517207
google	rs1057517207
pharmgkb	rs1057517207
gwascentral	rs1057517207
openSNP	rs1057517207
23andMe	rs1057517207
SNPshot	rs1057517207
SNPdbe	rs1057517207
MSV3d	rs1057517207
GWAS Ctlg	rs1057517207

Max Magnitude

0

ClinVar
Risk	rs1057517207(T;T)
Alt	rs1057517207(T;T)
Reference	Rs1057517207(C;C)
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.209797038G>A
CLNSRC
CLNACC	RCV000410937.1,