rs730880285

Orientation

minus

Stabilized

minus

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

Make rs730880285(C;C)

Make rs730880285(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

48580881

Gene	COL7A1, MIR711

is a	snp
is	mentioned by
dbSNP	rs730880285
dbSNP (classic)	rs730880285
ClinGen	rs730880285
ebi	rs730880285
HLI	rs730880285
Exac	rs730880285
Gnomad	rs730880285
Varsome	rs730880285
LitVar	rs730880285
Map	rs730880285
PheGenI	rs730880285
Biobank	rs730880285
1000 genomes	rs730880285
hgdp	rs730880285
ensembl	rs730880285
geneview	rs730880285
scholar	rs730880285
google	rs730880285
pharmgkb	rs730880285
gwascentral	rs730880285
openSNP	rs730880285
23andMe	rs730880285
SNPshot	rs730880285
SNPdbe	rs730880285
MSV3d	rs730880285
GWAS Ctlg	rs730880285

Max Magnitude

0

ClinVar
Risk	rs730880285(C;C)
Alt	rs730880285(C;C)
Reference	Rs730880285(G;G)
Significance	Probable-Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	MIR711 COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48618314C>G
CLNSRC
CLNACC	RCV000157650.1,