rs121912847

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 rs121912847(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48581271

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912847
dbSNP (classic)	rs121912847
ClinGen	rs121912847
ebi	rs121912847
HLI	rs121912847
Exac	rs121912847
Gnomad	rs121912847
Varsome	rs121912847
LitVar	rs121912847
Map	rs121912847
PheGenI	rs121912847
Biobank	rs121912847
1000 genomes	rs121912847
hgdp	rs121912847
ensembl	rs121912847
geneview	rs121912847
scholar	rs121912847
google	rs121912847
pharmgkb	rs121912847
gwascentral	rs121912847
openSNP	rs121912847
23andMe	rs121912847
SNPshot	rs121912847
SNPdbe	rs121912847
MSV3d	rs121912847
GWAS Ctlg	rs121912847

Max Magnitude

3

COL7A1 gene, c.4888C>T (p.Arg1630Ter)

23andMe name: i5004267

OMIM	120120
Desc
Variant	0032
Related	also

ClinVar
Risk	rs121912847(T;T)
Alt	rs121912847(T;T)
Reference	Rs121912847(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa pruriginosa not provided
Variation	info
Gene	COL7A1
CLNDBN	Epidermolysis bullosa pruriginosa, autosomal recessive not provided
Reversed	1
HGVS	NC_000003.11:g.48618704G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019005.28, RCV000388576.1,