rs1064797081

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Chromosome

3

Position

48566686

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1064797081
dbSNP (classic)	rs1064797081
ClinGen	rs1064797081
ebi	rs1064797081
HLI	rs1064797081
Exac	rs1064797081
Gnomad	rs1064797081
Varsome	rs1064797081
LitVar	rs1064797081
Map	rs1064797081
PheGenI	rs1064797081
Biobank	rs1064797081
1000 genomes	rs1064797081
hgdp	rs1064797081
ensembl	rs1064797081
geneview	rs1064797081
scholar	rs1064797081
google	rs1064797081
pharmgkb	rs1064797081
gwascentral	rs1064797081
openSNP	rs1064797081
23andMe	rs1064797081
SNPshot	rs1064797081
SNPdbe	rs1064797081
MSV3d	rs1064797081
GWAS Ctlg	rs1064797081

Max Magnitude

0

ClinVar
Risk	rs1064797081(A;A)
Alt	rs1064797081(A;A)
Reference	Rs1064797081(G;G)
Significance	Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48604119C>T
CLNSRC
CLNACC	RCV000487447.1,