rs1057520599

Orientation

minus

Stabilized

minus

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

Make rs1057520599(A;A)

Make rs1057520599(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48575410

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1057520599
dbSNP (classic)	rs1057520599
ClinGen	rs1057520599
ebi	rs1057520599
HLI	rs1057520599
Exac	rs1057520599
Gnomad	rs1057520599
Varsome	rs1057520599
LitVar	rs1057520599
Map	rs1057520599
PheGenI	rs1057520599
Biobank	rs1057520599
1000 genomes	rs1057520599
hgdp	rs1057520599
ensembl	rs1057520599
geneview	rs1057520599
scholar	rs1057520599
google	rs1057520599
pharmgkb	rs1057520599
gwascentral	rs1057520599
openSNP	rs1057520599
23andMe	rs1057520599
SNPshot	rs1057520599
SNPdbe	rs1057520599
MSV3d	rs1057520599
GWAS Ctlg	rs1057520599

Max Magnitude

0

ClinVar
Risk	rs1057520599(A;A)
Alt	rs1057520599(A;A)
Reference	Rs1057520599(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL7A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000003.11:g.48612843C>T
CLNSRC
CLNACC	RCV000436809.1,