rs121912828

Orientation

minus

Stabilized

minus

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

Make rs121912828(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48566281

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912828
dbSNP (classic)	rs121912828
ClinGen	rs121912828
ebi	rs121912828
HLI	rs121912828
Exac	rs121912828
Gnomad	rs121912828
Varsome	rs121912828
LitVar	rs121912828
Map	rs121912828
PheGenI	rs121912828
Biobank	rs121912828
1000 genomes	rs121912828
hgdp	rs121912828
ensembl	rs121912828
geneview	rs121912828
scholar	rs121912828
google	rs121912828
pharmgkb	rs121912828
gwascentral	rs121912828
openSNP	rs121912828
23andMe	rs121912828
SNPshot	rs121912828
SNPdbe	rs121912828
MSV3d	rs121912828
GWAS Ctlg	rs121912828

Max Magnitude

3

OMIM	120120
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912828(A;A)
Alt	rs121912828(A;A)
Reference	Rs121912828(T;T)
Significance	Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48603714A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018969.27,