rs1057518706

Orientation

minus

Stabilized

minus

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

Make rs1057518706(A;G)

Make rs1057518706(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48572667

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1057518706
dbSNP (classic)	rs1057518706
ClinGen	rs1057518706
ebi	rs1057518706
HLI	rs1057518706
Exac	rs1057518706
Gnomad	rs1057518706
Varsome	rs1057518706
LitVar	rs1057518706
Map	rs1057518706
PheGenI	rs1057518706
Biobank	rs1057518706
1000 genomes	rs1057518706
hgdp	rs1057518706
ensembl	rs1057518706
geneview	rs1057518706
scholar	rs1057518706
google	rs1057518706
pharmgkb	rs1057518706
gwascentral	rs1057518706
openSNP	rs1057518706
23andMe	rs1057518706
SNPshot	rs1057518706
SNPdbe	rs1057518706
MSV3d	rs1057518706
GWAS Ctlg	rs1057518706

Max Magnitude

0

ClinVar
Risk	rs1057518706(G;G)
Alt	rs1057518706(G;G)
Reference	Rs1057518706(A;A)
Significance	Pathogenic
Disease	Generalized dominant dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Generalized dominant dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48610100T>C
CLNSRC
CLNACC	RCV000415126.1,