rs1057517728

Orientation

minus

Stabilized

minus

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

Make rs1057517728(A;A)

Make rs1057517728(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48570129

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1057517728
dbSNP (classic)	rs1057517728
ClinGen	rs1057517728
ebi	rs1057517728
HLI	rs1057517728
Exac	rs1057517728
Gnomad	rs1057517728
Varsome	rs1057517728
LitVar	rs1057517728
Map	rs1057517728
PheGenI	rs1057517728
Biobank	rs1057517728
1000 genomes	rs1057517728
hgdp	rs1057517728
ensembl	rs1057517728
geneview	rs1057517728
scholar	rs1057517728
google	rs1057517728
pharmgkb	rs1057517728
gwascentral	rs1057517728
openSNP	rs1057517728
23andMe	rs1057517728
SNPshot	rs1057517728
SNPdbe	rs1057517728
MSV3d	rs1057517728
GWAS Ctlg	rs1057517728

Max Magnitude

0

ClinVar
Risk	rs1057517728(A;A)
Alt	rs1057517728(A;A)
Reference	Rs1057517728(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000003.11:g.48607562C>T
CLNSRC
CLNACC	RCV000414518.1,