rs121912845

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 rs121912845(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48580301

Gene	COL7A1, MIR711

is a	snp
is	mentioned by
dbSNP	rs121912845
dbSNP (classic)	rs121912845
ClinGen	rs121912845
ebi	rs121912845
HLI	rs121912845
Exac	rs121912845
Gnomad	rs121912845
Varsome	rs121912845
LitVar	rs121912845
Map	rs121912845
PheGenI	rs121912845
Biobank	rs121912845
1000 genomes	rs121912845
hgdp	rs121912845
ensembl	rs121912845
geneview	rs121912845
scholar	rs121912845
google	rs121912845
pharmgkb	rs121912845
gwascentral	rs121912845
openSNP	rs121912845
23andMe	rs121912845
SNPshot	rs121912845
SNPdbe	rs121912845
MSV3d	rs121912845
GWAS Ctlg	rs121912845

Max Magnitude

3

COL7A1 gene, c.5096C>T (p.Pro1699Leu)

23andMe name: i5004269

OMIM	120120
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121912845(T;T)
Alt	rs121912845(T;T)
Reference	Rs121912845(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa
Variation	info
Gene	MIR711 COL7A1
CLNDBN	Epidermolysis bullosa, pretibial, autosomal recessive
Reversed	1
HGVS	NC_000003.11:g.48617734G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019002.24,