rs387906604

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation

Make rs387906604(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48565458

Gene	COL7A1, UCN2

is a	snp
is	mentioned by
dbSNP	rs387906604
dbSNP (classic)	rs387906604
ClinGen	rs387906604
ebi	rs387906604
HLI	rs387906604
Exac	rs387906604
Gnomad	rs387906604
Varsome	rs387906604
LitVar	rs387906604
Map	rs387906604
PheGenI	rs387906604
Biobank	rs387906604
1000 genomes	rs387906604
hgdp	rs387906604
ensembl	rs387906604
geneview	rs387906604
scholar	rs387906604
google	rs387906604
pharmgkb	rs387906604
gwascentral	rs387906604
openSNP	rs387906604
23andMe	rs387906604
SNPshot	rs387906604
SNPdbe	rs387906604
MSV3d	rs387906604
GWAS Ctlg	rs387906604

Max Magnitude

3

ClinVar
Risk	rs387906604(T;T)
Alt	rs387906604(T;T)
Reference	Rs387906604(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa dystrophica inversa
Variation	info
Gene	COL7A1 UCN2
CLNDBN	Epidermolysis bullosa dystrophica inversa, autosomal recessive
Reversed	1
HGVS	NC_000003.11:g.48602891G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022477.24,