rs1064797080

Orientation

minus

Stabilized

minus

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

Chromosome

3

Position

48575678

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1064797080
dbSNP (classic)	rs1064797080
ClinGen	rs1064797080
ebi	rs1064797080
HLI	rs1064797080
Exac	rs1064797080
Gnomad	rs1064797080
Varsome	rs1064797080
LitVar	rs1064797080
Map	rs1064797080
PheGenI	rs1064797080
Biobank	rs1064797080
1000 genomes	rs1064797080
hgdp	rs1064797080
ensembl	rs1064797080
geneview	rs1064797080
scholar	rs1064797080
google	rs1064797080
pharmgkb	rs1064797080
gwascentral	rs1064797080
openSNP	rs1064797080
23andMe	rs1064797080
SNPshot	rs1064797080
SNPdbe	rs1064797080
MSV3d	rs1064797080
GWAS Ctlg	rs1064797080

Max Magnitude

0

ClinVar
Risk	rs1064797080(-;-)
Alt	rs1064797080(-;-)
Reference	Rs1064797080(AACG;AACG)
Significance	Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48613111_48613114delCGTT
CLNSRC
CLNACC	RCV000487435.1,