rs121912849

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 rs121912849(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48575236

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912849
dbSNP (classic)	rs121912849
ClinGen	rs121912849
ebi	rs121912849
HLI	rs121912849
Exac	rs121912849
Gnomad	rs121912849
Varsome	rs121912849
LitVar	rs121912849
Map	rs121912849
PheGenI	rs121912849
Biobank	rs121912849
1000 genomes	rs121912849
hgdp	rs121912849
ensembl	rs121912849
geneview	rs121912849
scholar	rs121912849
google	rs121912849
pharmgkb	rs121912849
gwascentral	rs121912849
openSNP	rs121912849
23andMe	rs121912849
SNPshot	rs121912849
SNPdbe	rs121912849
MSV3d	rs121912849
GWAS Ctlg	rs121912849

Max Magnitude

3

COL7A1 gene, c.6187C>T (p.Arg2063Trp)

23andMe name: i5004265

OMIM	120120
Desc
Variant	0034
Related	also

ClinVar
Risk	rs121912849(T;T)
Alt	rs121912849(T;T)
Reference	Rs121912849(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.48612669G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019007.24, RCV000413807.1,