rs1057517969

Orientation

minus

Stabilized

minus

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

Make rs1057517969(C;C)

Make rs1057517969(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48572923

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1057517969
dbSNP (classic)	rs1057517969
ClinGen	rs1057517969
ebi	rs1057517969
HLI	rs1057517969
Exac	rs1057517969
Gnomad	rs1057517969
Varsome	rs1057517969
LitVar	rs1057517969
Map	rs1057517969
PheGenI	rs1057517969
Biobank	rs1057517969
1000 genomes	rs1057517969
hgdp	rs1057517969
ensembl	rs1057517969
geneview	rs1057517969
scholar	rs1057517969
google	rs1057517969
pharmgkb	rs1057517969
gwascentral	rs1057517969
openSNP	rs1057517969
23andMe	rs1057517969
SNPshot	rs1057517969
SNPdbe	rs1057517969
MSV3d	rs1057517969
GWAS Ctlg	rs1057517969

Max Magnitude

0

ClinVar
Risk	rs1057517969(C;C)
Alt	rs1057517969(C;C)
Reference	Rs1057517969(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000003.11:g.48610356C>G
CLNSRC
CLNACC	RCV000413930.1,