rs121912832

Orientation

minus

Stabilized

minus

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

Make rs121912832(A;A)

Make rs121912832(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48575512

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912832
dbSNP (classic)	rs121912832
ClinGen	rs121912832
ebi	rs121912832
HLI	rs121912832
Exac	rs121912832
Gnomad	rs121912832
Varsome	rs121912832
LitVar	rs121912832
Map	rs121912832
PheGenI	rs121912832
Biobank	rs121912832
1000 genomes	rs121912832
hgdp	rs121912832
ensembl	rs121912832
geneview	rs121912832
scholar	rs121912832
google	rs121912832
pharmgkb	rs121912832
gwascentral	rs121912832
openSNP	rs121912832
23andMe	rs121912832
SNPshot	rs121912832
SNPdbe	rs121912832
MSV3d	rs121912832
GWAS Ctlg	rs121912832

Max Magnitude

0

OMIM	120120
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912832(A;A)
Alt	rs121912832(A;A)
Reference	Rs121912832(G;G)
Significance	Pathogenic
Disease	Dominant dystrophic epidermolysis bullosa with absence of skin not provided
Variation	info
Gene	COL7A1
CLNDBN	Dominant dystrophic epidermolysis bullosa with absence of skin not provided
Reversed	1
HGVS	NC_000003.11:g.48612945C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018976.27, RCV000414493.1,