rs121912852

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 rs121912852(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48570304

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912852
dbSNP (classic)	rs121912852
ClinGen	rs121912852
ebi	rs121912852
HLI	rs121912852
Exac	rs121912852
Gnomad	rs121912852
Varsome	rs121912852
LitVar	rs121912852
Map	rs121912852
PheGenI	rs121912852
Biobank	rs121912852
1000 genomes	rs121912852
hgdp	rs121912852
ensembl	rs121912852
geneview	rs121912852
scholar	rs121912852
google	rs121912852
pharmgkb	rs121912852
gwascentral	rs121912852
openSNP	rs121912852
23andMe	rs121912852
SNPshot	rs121912852
SNPdbe	rs121912852
MSV3d	rs121912852
GWAS Ctlg	rs121912852

Max Magnitude

3

COL7A1 gene, c.7411C>T (p.Arg2471Ter)

23andMe name: i5004262

OMIM	120120
Desc
Variant	0037
Related	also

ClinVar
Risk	rs121912852(T;T)
Alt	rs121912852(T;T)
Reference	Rs121912852(C;C)
Significance	Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa not provided
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa not provided
Reversed	1
HGVS	NC_000003.11:g.48607737G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019010.29, RCV000255683.2,