rs1057517720

Orientation

minus

Stabilized

minus

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

Make rs1057517720(-;TGGA)

Make rs1057517720(TGGA;TGGA)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48589414

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1057517720
dbSNP (classic)	rs1057517720
ClinGen	rs1057517720
ebi	rs1057517720
HLI	rs1057517720
Exac	rs1057517720
Gnomad	rs1057517720
Varsome	rs1057517720
LitVar	rs1057517720
Map	rs1057517720
PheGenI	rs1057517720
Biobank	rs1057517720
1000 genomes	rs1057517720
hgdp	rs1057517720
ensembl	rs1057517720
geneview	rs1057517720
scholar	rs1057517720
google	rs1057517720
pharmgkb	rs1057517720
gwascentral	rs1057517720
openSNP	rs1057517720
23andMe	rs1057517720
SNPshot	rs1057517720
SNPdbe	rs1057517720
MSV3d	rs1057517720
GWAS Ctlg	rs1057517720

Max Magnitude

0

ClinVar
Risk	rs1057517720(TGGA;TGGA)
Alt	rs1057517720(TGGA;TGGA)
Reference	Rs1057517720(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000003.11:g.48626848_48626851dupTCCA
CLNSRC
CLNACC	RCV000413419.1,