rs142566193

Orientation

plus

Stabilized

plus

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

Make rs142566193(A;A)

Make rs142566193(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

48566303

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs142566193
dbSNP (classic)	rs142566193
ClinGen	rs142566193
ebi	rs142566193
HLI	rs142566193
Exac	rs142566193
Gnomad	rs142566193
Varsome	rs142566193
LitVar	rs142566193
Map	rs142566193
PheGenI	rs142566193
Biobank	rs142566193
1000 genomes	rs142566193
hgdp	rs142566193
ensembl	rs142566193
geneview	rs142566193
scholar	rs142566193
google	rs142566193
pharmgkb	rs142566193
gwascentral	rs142566193
openSNP	rs142566193
23andMe	rs142566193
SNPshot	rs142566193
SNPdbe	rs142566193
MSV3d	rs142566193
GWAS Ctlg	rs142566193

Max Magnitude

0

ClinVar
Risk	rs142566193(A;A)
Alt	rs142566193(A;A)
Reference	Rs142566193(G;G)
Significance	Probable-Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa
Reversed	0
HGVS	NC_000003.11:g.48603736G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000193478.1,