rs143457874

Orientation

plus

Stabilized

plus

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

Make rs143457874(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

48565636

Gene	COL7A1, UCN2

is a	snp
is	mentioned by
dbSNP	rs143457874
dbSNP (classic)	rs143457874
ClinGen	rs143457874
ebi	rs143457874
HLI	rs143457874
Exac	rs143457874
Gnomad	rs143457874
Varsome	rs143457874
LitVar	rs143457874
Map	rs143457874
PheGenI	rs143457874
Biobank	rs143457874
1000 genomes	rs143457874
hgdp	rs143457874
ensembl	rs143457874
geneview	rs143457874
scholar	rs143457874
google	rs143457874
pharmgkb	rs143457874
gwascentral	rs143457874
openSNP	rs143457874
23andMe	rs143457874
SNPshot	rs143457874
SNPdbe	rs143457874
MSV3d	rs143457874
GWAS Ctlg	rs143457874

Max Magnitude

3

ClinVar
Risk	rs143457874(A;A)
Alt	rs143457874(A;A)
Reference	Rs143457874(G;G)
Significance	Pathogenic
Disease	not provided Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1 UCN2
CLNDBN	not provided Recessive dystrophic epidermolysis bullosa
Reversed	0
HGVS	NC_000003.11:g.48603069G>A
CLNSRC
CLNACC	RCV000255944.1, RCV000269116.1,