rs1057520530

Orientation

minus

Stabilized

minus

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

Make rs1057520530(C;C)

Make rs1057520530(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48575418

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1057520530
dbSNP (classic)	rs1057520530
ClinGen	rs1057520530
ebi	rs1057520530
HLI	rs1057520530
Exac	rs1057520530
Gnomad	rs1057520530
Varsome	rs1057520530
LitVar	rs1057520530
Map	rs1057520530
PheGenI	rs1057520530
Biobank	rs1057520530
1000 genomes	rs1057520530
hgdp	rs1057520530
ensembl	rs1057520530
geneview	rs1057520530
scholar	rs1057520530
google	rs1057520530
pharmgkb	rs1057520530
gwascentral	rs1057520530
openSNP	rs1057520530
23andMe	rs1057520530
SNPshot	rs1057520530
SNPdbe	rs1057520530
MSV3d	rs1057520530
GWAS Ctlg	rs1057520530

Max Magnitude

0

ClinVar
Risk	rs1057520530(C;C)
Alt	rs1057520530(C;C)
Reference	Rs1057520530(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000003.11:g.48612851C>G
CLNSRC
CLNACC	RCV000440486.1,