rs1064797079

Orientation

minus

Stabilized

minus

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

Chromosome

3

Position

48588988

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1064797079
dbSNP (classic)	rs1064797079
ClinGen	rs1064797079
ebi	rs1064797079
HLI	rs1064797079
Exac	rs1064797079
Gnomad	rs1064797079
Varsome	rs1064797079
LitVar	rs1064797079
Map	rs1064797079
PheGenI	rs1064797079
Biobank	rs1064797079
1000 genomes	rs1064797079
hgdp	rs1064797079
ensembl	rs1064797079
geneview	rs1064797079
scholar	rs1064797079
google	rs1064797079
pharmgkb	rs1064797079
gwascentral	rs1064797079
openSNP	rs1064797079
23andMe	rs1064797079
SNPshot	rs1064797079
SNPdbe	rs1064797079
MSV3d	rs1064797079
GWAS Ctlg	rs1064797079

Max Magnitude

0

ClinVar
Risk	rs1064797079(CTGA;CTGA)
Alt	rs1064797079(CTGA;CTGA)
Reference	Rs1064797079(-;-)
Significance	Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48626421_48626422insTCAG
CLNSRC
CLNACC	RCV000487456.1,