rs1064797082

Orientation

minus

Stabilized

minus

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

Chromosome

3

Position

48581288

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1064797082
dbSNP (classic)	rs1064797082
ClinGen	rs1064797082
ebi	rs1064797082
HLI	rs1064797082
Exac	rs1064797082
Gnomad	rs1064797082
Varsome	rs1064797082
LitVar	rs1064797082
Map	rs1064797082
PheGenI	rs1064797082
Biobank	rs1064797082
1000 genomes	rs1064797082
hgdp	rs1064797082
ensembl	rs1064797082
geneview	rs1064797082
scholar	rs1064797082
google	rs1064797082
pharmgkb	rs1064797082
gwascentral	rs1064797082
openSNP	rs1064797082
23andMe	rs1064797082
SNPshot	rs1064797082
SNPdbe	rs1064797082
MSV3d	rs1064797082
GWAS Ctlg	rs1064797082

Max Magnitude

0

ClinVar
Risk	rs1064797082(-;-)
Alt	rs1064797082(-;-)
Reference	Rs1064797082(C;C)
Significance	Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48618721delG
CLNSRC
CLNACC	RCV000487428.1,